| HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| 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:0000044 | Hypogonadotrophic hypogonadism | "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:curators] |
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| HP:0000126 | Hydronephrosis | |
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| HP:0000219 | Thin upper lip | |
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| HP:0000238 | Hydrocephalus | |
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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:0000343 | Long philtrum | |
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| HP:0000365 | Hearing loss | |
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| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000648 | Optic atrophy | |
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| HP:0000823 | Delayed puberty | |
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| HP:0000863 | Central diabetes insipidus | "A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus." [HPO:curators] |
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| HP:0000870 | Hyperprolactinemia | "The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy." [HPO:curators] |
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| HP:0001085 | Papilledema | "Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure." [HPO:curators] |
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| HP:0001117 | Sudden central visual loss | |
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| HP:0001249 | Mental retardation | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001259 | Coma | |
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| HP:0001262 | Somnolence | |
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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:0001264 | Spastic diplegia | "Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis." [HPO:curators] |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001395 | Hepatic fibrosis | |
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| HP:0001402 | Hepatocellular carcinoma | |
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| HP:0001413 | Micronodular cirrhosis | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001428 | Somatic mutation | |
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| HP:0001482 | Subcutaneous nodules | |
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| HP:0001513 | Obesity | "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765] |
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| HP:0001658 | Myocardial infarction | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0002013 | Vomiting | |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002024 | Malabsorption | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
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| HP:0002167 | Neurological speech impairment | |
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| HP:0002239 | Gastrointestinal hemorrhage | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002315 | Headache | "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators] |
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| HP:0002321 | Vertigo | "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators] |
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| HP:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [HPO:curators] |
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| HP:0002516 | Increased intracranial pressure | |
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| HP:0002591 | Polyphagia | |
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| HP:0002605 | Hepatic necrosis | |
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| HP:0002637 | Cerebral ischemia | |
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| HP:0002659 | Increased susceptibility to fractures | "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [HPO:sdoelken] |
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| HP:0002719 | Recurrent infections | |
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| HP:0002797 | Osteolysis | |
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| HP:0002829 | Arthralgia | |
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| HP:0002885 | Medulloblastoma | |
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| HP:0002891 | Uterine leiomyosarcoma | |
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| HP:0003002 | Breast cancer | |
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| HP:0003011 | Abnormality of musculature | "Abnormality originating in one or more muscles." [HPO:curators] |
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| HP:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
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| HP:0003508 | Proportionate short stature | "Short stature affecting the trunk and the limbs proportionately." [HPO:curators] |
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| HP:0003593 | Early onset | |
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| HP:0003829 | Incomplete penetrance | |
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| HP:0004298 | Abnormality of the abdominal wall | "The presence of any abnormality affecting the abdominal wall." [HPO:curators] |
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| HP:0005214 | Intestinal obstruction | |
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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:0005978 | Noninsulin-dependent diabetes mellitus | |
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| HP:0006254 | Elevated alpha-fetoprotein | "An elevation of alpha-feto protein, which is produced by the fetal liver and the yolk sac and may be increased in the serum of pregnant women with a fetus with some types of developmental anomaly such as open neural tube defects and omphalaocele." [HPO:curators] |
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| HP:0006572 | Subacute progressive viral hepatitis | |
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| HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | |
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| HP:0006740 | Transitional cell carcinoma of the bladder | |
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| HP:0006753 | Increased gastric cancer | |
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| HP:0006774 | Ovarian papillary adenocarcinoma | |
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| HP:0007703 | Abnormal retinal pigmentation | |
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| HP:0007924 | Slow decrease in visual acuity | |
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| HP:0007987 | Progressive visual field defects | |
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| HP:0008069 | Neoplasia of the skin | |
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| HP:0008245 | Tsh deficient hypothyroidism | |
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| HP:0008897 | Growth retardation, progressive | |
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| HP:0010535 | Sleep apnea | "An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep." [HPO:curators] |
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| HP:0010576 | Cystic malformations affecting the central nervous system | |
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| HP:0010939 | Abnormality of the nasal bone | "An abnormality of the `nasal bone` (FMA:52745), comprising the `left nasal bone` (FMA:53648) and the `right nasal bone` (FMA:53647)." [HPO:probinson] |
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| HP:0011734 | Central adrenal insufficiency | "A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected." [DDD:spark] |
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| HP:0011750 | Neoplasm of the anterior pituitary | "The presence of a `neoplasm` (MPATH:218) (tumour) in the `adenohypophysis` (FMA:74627), which is also known as the anterior lobe of the pituitary gland." [DDD:spark] |
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| HP:0012286 | Abnormal hypothalamus morphology | "Any structural anomaly of the `hypothalamus` (FMA:62008)." [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:0012505 | Enlarged pituitary gland | "An abnormally increased size of the `pituitary gland` (FMA:13889)." [ORCID:0000-0001-5208-3432] |
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| HP:0030242 | Portal vein thrombosis | "Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the sup-erior and inferior mesenteric veins." [HPO:probinson, pmid:21960890] |
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| HP:0030434 | Pilomatrixoma | "Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm." [HPO:probinson, pmid:21430899] |
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| HP:0030521 | Bitemporal hemianopia | |
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| HP:0030588 | Abnormal visual field test | |
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| HP:0100245 | Desmoid tumors | "Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine." [HPO:sdoelken] |
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| HP:0100621 | Dysgerminoma | "The presence of a `dysgerminoma` (MPATH:312), i.e., an undifferentiated germ cell tumor of the `ovary` (FMA:7209)." [HPO:sdoelken] |
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| HP:0100749 | Chest pain | |
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| HP:0100806 | Sepsis | |
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| HP:0200008 | Multiple intestinal polyps | |
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| HP:0410019 | Epigastric pain | "Pain that is localized to the region of the upper abdomen immediately below the ribs." [https://www.healthgrades.com/symptoms/epigastric-pain, orcid.org/0000-0001-5208-3432] |
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| HP:0430000 | Abnormality of the frontal bone | "An abnormality of the frontal bone." [GOC:MG] |
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