| A-T | ataxia telangiectasia |
|---|---|
| CREST | calcinosis, Raynaud phenomenon, esophageal involvement, sclerodactyly, and telangiectasia [syndrome]... |
| CRST | calcinosis, Raynaud phenomenon, sclerodactyly, telangiectasia [syndrome]; corrected sinus recovery t... |
| HHT | head halter traction; hereditary hemorrhagic telangiectasia; heterotopic heart transplantation; homo... |
| REST | Raynaud's phenomenon, esophageal motor dysfunction, sclerodactyly, and telangiectasia [syndrome]; re... |
familial leiomyomatosis cutis et uteri (가족성 피부 자궁 근종증
| benign familial icterus | Mild jaundice due to increased amounts of unconjugated bilirubin in the plasma without evidence of liver damage, biliary obstruction, or haemolysis; thought to be due to an inborn error of metabolism in which the excretion of bilirubin by the liver is defective, ascribed to decreased conjugation of bilirubin as a glucuronide or impaired uptake of hepatic bilirubin. Synonym: benign familial icterus, constitutional hepatic dysfunction, Gilbert's disease, Gilbert's syndrome, Hebra's disease. (05 Mar 2000) |
|---|---|
| cancer, breast, familial | A number of factors have been identified that increase the risk of breast cancer. One of the strongest of these risk factors is the history of breast cancer in a relative. About 15-20% of women with breast cancer have such a family history of the disease, clearly reflecting the participation of inherited (genetic) components in the development of some breast cancers. Dominant breast cancer suceptibility genes, including BRCA1 and BRCA2, appear responsible for about 5% of all breast cancer. (12 Dec 1998) |
| paralysis, familial periodic | An autosomal dominant trait marked by recurring attacks of rapidly progressive flaccid paralysis. There are three types: I, associated with a fall in serum potassium levels (hypokalaemic periodic paralysis); II, associated with a rise therein (hyperkalaemic periodic paralysis, called also adynamia episodica hereditaria); and III, with normal levels (normokalaemic periodic paralysis). (12 Dec 1998) |
| pemphigus, benign familial | Rare hereditary disease characterised by recurrent eruptions of vesicles and bullae mainly on the neck, axillae, and groin. It exhibits autosomal dominant inheritance and is unrelated to pemphigus vulgaris though it closely resembles that disease. (12 Dec 1998) |
| chronic familial icterus | <haematology> A hereditary disorder that leads to a chronic haemolytic anaemia due to an abnormality in the red blood cell membrane. This disorder is caused by a defective gene. Red cells are resistant to stress and rupture easily. Infants may appear jaundiced and pale. Fatigue, weakness and shortness of breath are other symptoms that may be seen in older patients. The spleen may also be enlarged. Treatment includes splenectomy (removal of the spleen). After this is accomplished the life-span of the red blood cells returns to normal. (27 Sep 1997) |
| chronic familial jaundice | <haematology> A hereditary disorder that leads to a chronic haemolytic anaemia due to an abnormality in the red blood cell membrane. This disorder is caused by a defective gene. Red cells are resistant to stress and rupture easily. Infants may appear jaundiced and pale. Fatigue, weakness and shortness of breath are other symptoms that may be seen in older patients. The spleen may also be enlarged. Treatment includes splenectomy (removal of the spleen). After this is accomplished the life-span of the red blood cells returns to normal. (27 Sep 1997) |
| chronic familial polyneuritis | Inflammation of nerves related to infiltration by amyloid. (05 Mar 2000) |
| mixed hyperlipoproteinaemia familial | Type 5 hyperlipidemia, elevations of VLDL and chylomicrons found in plasma. Synonym: mixed hyperlipidemia. (05 Mar 2000) |
| progressive familial scleroderma | A syndrome characterised by calcinosis cutis, Raynaud's phenomenon, sclerodactyly, and telangiectasia; usually due to scleroderma; autosomal dominant form of progressive systemic sclerosis. (05 Mar 2000) |
| hypercholesterolaemia, familial | A familial disorder characterised by increased plasma concentration of cholesterol carried in low density lipoproteins (ldl) and by a deficiency in a cell surface receptor which regulates ldl degradation and cholesterol synthesis. It is frequently associated with arcus senilis and premature atherosclerosis. (12 Dec 1998) |
| hyperlipidemia, familial combined | A disorder genetically distinct from the other inherited hyperlipidemias characterised by the type II or type IV lipoprotein pattern (the pattern may change from time to time and the lipid level may be normal at one time and abnormal at another time). (12 Dec 1998) |
| hypophosphatemia, familial | Familial disorder characterised by hypophosphatemia associated with decreased renal tubular reabsorption of inorganic phosphorus. It is sometimes associated with osteomalacia or rickets which do not respond to the usual doses of vitamin d. (12 Dec 1998) |
| Danubian endemic familial nephropathy | A tubulointerstitial disease of unknown aetiology occurring in a limited geographic area including adjacent regions of romania, bulgaria, and yugoslavia. (12 Dec 1998) |
| diffuse infantile familial sclerosis | <radiology> Dysmyelinating disease, autosomal recessive, usually presents by 1 yr, specific enzyme deficiency identified, rapid spontaneous nystagmus, poikilothermia Synonym: Krabbe leukodystrophy (12 Dec 1998) |
| dysautonomia, familial | An autosomal recessive inherited disorder seen predominantly in jewish infants and children. The peripheral autonomic and sensory neurons are affected. The characteristic distinguishing this disorder from other hereditary sensory and autonomic neuropathies is the predominance of autonomic symptoms such as excessive perspiration, defective lacrimation, and hypertension. Insensitivity to pain and areflexia are also present. (12 Dec 1998) |