| 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:0000026 | Hypogonadism, male | "Lack of function of the males gonads (i.e., testes)." [HPO:curators] |
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| HP:0000055 | Abnormality of female external genitalia | |
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| HP:0000076 | Vesicoureteral reflux | "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators] |
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| HP:0000083 | Renal failure | |
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| HP:0000121 | Nephrocalcinosis | |
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| HP:0000123 | Nephritis | "The presence of inflammation affecting the kidney." [HPO:curators] |
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| HP:0000147 | polycystic ovaries | |
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| HP:0000164 | Abnormality of the teeth | "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators] |
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| HP:0000230 | Gingivitis | |
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| HP:0000311 | Round face | "An unusually round appearance of the face." [HPO:curators] |
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| HP:0000388 | Otitis media | |
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| HP:0000389 | Chronic otitis media | |
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| HP:0000408 | Hearing loss, sensorineural, progressive | |
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| HP:0000490 | Deep set eyes | |
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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:0000523 | Subcapsular cataracts | |
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| HP:0000529 | Progressive visual loss | |
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| HP:0000532 | Chorioretinal abnormality | |
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| HP:0000548 | Cone-rod dystrophy | |
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| HP:0000580 | Pigmentary retinopathy | |
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| HP:0000613 | Photophobia | "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators] |
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| HP:0000618 | Blindness | |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000717 | Autism | |
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| HP:0000722 | Obsessive-compulsive disorder | |
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| HP:0000771 | Gynecomastia | |
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| HP:0000795 | Abnormality of the urethra | "An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body." [HPO:curators] |
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| HP:0000815 | Hypergonadotropic hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." [HPO:curators] |
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| HP:0000821 | Hypothyroidism | |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000824 | Growth hormone deficiency | "Insufficient production of growth hormone, which is produced by the anterior pituitary gland." [HPO:curators] |
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| HP:0000826 | Precocious puberty | "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [HPO:curators] |
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| HP:0000831 | Insulin-resistant diabetes mellitus | |
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| HP:0000842 | Hyperinsulinemia | |
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| HP:0000855 | Insulin resistance | |
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| HP:0000858 | Menstrual irregularities | |
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| HP:0000873 | Diabetes insipidus | "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." [HPO:curators] |
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| HP:0000956 | Acanthosis nigricans | |
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| HP:0001133 | Constricted visual fields | |
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| HP:0001155 | Abnormality of the hand | "An abnormality affecting one or both hands." [HPO:curators] |
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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: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:0001394 | Cirrhosis | |
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| HP:0001397 | Hepatic steatosis | |
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| HP:0001409 | Portal hypertension | |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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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:0001644 | Dilated cardiomyopathy | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001763 | Pes planus | "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators] |
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| HP:0001956 | Truncal obesity | "Obesity located preferentially in the trunk of the body as opposed to the extremities." [HPO:curators] |
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| HP:0001970 | Tubulointerstitial nephritis | |
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| HP:0002092 | Pulmonary hypertension | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002099 | Asthma | "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." [HPO:curators] |
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| HP:0002149 | Hyperuricemia | "An abnormally high level of uric acid in the blood." [HPO:curators] |
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| HP:0002155 | Hypertriglyceridemia | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002206 | Pulmonary fibrosis | |
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| HP:0002230 | Generalized hirsutism | "Abnormally increased hair growth over much of the entire body." [HPO:curators] |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002621 | Atherosclerosis | "A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002808 | Kyphosis | |
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| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
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| HP:0003233 | Decreased HDL cholesterol | |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0004438 | Hyperostosis frontalis interna | "Bony overgrowth of the internal surface of frontal bone." [HPO:curators] |
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| HP:0005616 | Accelerated skeletal maturation | "An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| HP:0005978 | Noninsulin-dependent diabetes mellitus | |
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| HP:0005987 | Multinodular goiter | |
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| HP:0006532 | Pneumonia, recurrent episodes | |
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| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
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| HP:0008734 | Decreased testicular size | |
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| HP:0009124 | Abnormality of adipose tissue | "An abnormality of adipose (or fat) tissue, which is loose connective tissue composed of adipocytes." [HPO:curators] |
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| HP:0100613 | Death in early adulthood | |
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| HP:0100626 | Chronic hepatic failure | |
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| HP:0100817 | Renovascular hypertension | "The presence of `hypertension` (HP:0000822) related to stenosis of the `renal artery` (FMA:14751)." [HPO:probinson] |
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| HP:0100820 | Glomerulopathy | "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron." [HPO:sdoelken] |
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| HP:0200120 | Chronic active hepatitis | |
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