| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000093 | Proteinuria | |
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| HP:0000096 | Glomerulosclerosis | |
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| HP:0000131 | Uterine leiomyoma | |
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| HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000405 | Hearing loss, conductive | |
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| HP:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
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| HP:0000505 | Impaired vision | |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000526 | Aniridia | "Congenital absence of the iris." [HPO:curators] |
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| HP:0000648 | Optic atrophy | |
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| HP:0000740 | Anxiety (with pheochromocytoma) | |
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| HP:0000790 | Hematuria | "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] |
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| HP:0000980 | Pallor | |
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| HP:0000989 | Pruritus | "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators] |
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| HP:0001069 | Hyperhidrosis, episodic | |
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| HP:0001095 | Hypertensive retinopathy | |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001274 | Agenesis of corpus callosum | "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001293 | Cranial nerve compression | |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001342 | Cerebral hemorrhage | "A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself." [HPO:curators] |
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| HP:0001396 | Cholestasis | |
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| HP:0001399 | Hepatic failure | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001605 | Vocal cord paralysis | |
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| HP:0001618 | Dysphonia | |
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| HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| HP:0001824 | Weight loss | |
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| HP:0001901 | Erythrocytosis | |
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| HP:0001942 | Metabolic acidosis | |
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| HP:0001962 | Palpitations | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002018 | Nausea | |
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| HP:0002059 | Cerebral atrophy | |
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| HP:0002126 | Polymicrogyria | "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators] |
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| HP:0002133 | Status epilepticus | |
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| HP:0002167 | Neurological speech impairment | |
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| HP:0002187 | Mental retardation, profound | "Severe mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:curators] |
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| HP:0002190 | Choroid plexus cyst | |
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| HP:0002331 | Headache (with pheochromocytoma) | |
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| HP:0002365 | Hypoplasia of the brainstem | |
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| HP:0002574 | Episodic abdominal pain | |
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| HP:0002864 | Paragangliomas, head and neck | |
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| HP:0002891 | Uterine leiomyosarcoma | |
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| HP:0003011 | Abnormality of musculature | "Abnormality originating in one or more muscles." [HPO:curators] |
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| HP:0003072 | Hypercalcemia | "A level of blood calcium that is higher than normal." [HPO:curators] |
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| HP:0003128 | Lactic acidemia | "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood." [HPO:probinson] |
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| HP:0003345 | Elevated urinary norepinephrine | |
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| HP:0003355 | Abnormal urinary amino-acid findings | |
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| HP:0003528 | Elevated calcitonin | |
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| HP:0003574 | Positive regitine test | |
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| HP:0003639 | Increased urinary epinephrine | |
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| HP:0003758 | Reduced subcutaneous adipose tissue | "The presence of an abnormally reduced amount of subcutaneous adipose tissue." [HPO:curators] |
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| HP:0004482 | Relative macrocephaly | "A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account." [HPO:curators] |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005584 | Renal cell carcinoma | "Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma." [HPO:curators] |
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| HP:0006732 | Renal cell carcinoma, solitary papillary type ii | |
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| HP:0006737 | Pheochromocytoma, extraadrenal | "Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia." [HPO:curators] |
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| HP:0006748 | Pheochromocytoma, adrenal | "Pheochromocytoma originating from the adrenal medulla." [HPO:curators] |
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| HP:0007437 | Multiple cutaneous leiomyomas | |
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| HP:0007620 | Cutaneous leiomyomata | "Cutaneous leiomyomata are benign soft tissue neoplasms that arise from smooth muscle cells in the skin." [HPO:curators] |
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| HP:0008629 | Pulsatile tinnitus | "Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such a spatulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus." [HPO:curators] |
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| HP:0009711 | Retinal hemangioblastoma | "Retinal hemangioblastoma is a benign vascular tumor of the retina without any neoplastic characteristics. They have been called "retinal angiomas" and "retinal hemangiomas" but hemangioblastoma is the preferred term since they are histologically identical to lesions found in the CNS." [HPO:curators] |
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| HP:0010532 | Paroxysmal vertigo | "Paroxysmal episodes of vertigo." [HPO:curators] |
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| HP:0011703 | Sinus tachycardia | "Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands." [HPO:probinson, pmid:15763524] |
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| HP:0011979 | Elevated urinary dopamine | "An increased concentration of `dopamine` (CHEBI:18243) in the `urine` (FMA:12274)." [HPO:probinson] |
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| HP:0012222 | Arachnoid hemangiomatosis | "The presence of multiple hemangiomas in the arachnoid." [HPO:probinson] |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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| HP:0025269 | Panic attack | "A sudden episode of intense fear in a situation in which there is no danger or apparent cause. The panic attack is accompanied by symptoms such as palpitations, sweating and chills or hot flushes. There may be a sensation of dyspnea (being out of breath), chest pain, or abdominal distress. Some indiviudals with panic attacks may experience depersonalization, a fear of going crazy, or a fear of dying." [] |
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| HP:0031284 | Flushing | "Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin." [] |
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| HP:0100580 | Barrett esophagus | "An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system." [HPO:sdoelken] |
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| HP:0100650 | Vaginal neoplasm | "The presence of a `neoplasm` (MPATH:218) of the `vagina` (FMA:19949)." [HPO:probinson] |
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| HP:0100749 | Chest pain | |
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| HP:0100954 | Open operculum | "Underdevelopment of the operculum." [HPO:sdoelken] |
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