| LD | labor and delivery; laboratory data; labyrinthine defect; lactate dehydrogenase; laser Doppler; lear... |
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| FHH | Familial Hypocalciuric Hypercalcemia = Familial Benign Hypercalcemia |
| FAD | familial Alzheimer dementia; familial autonomic dysfunction; fetal activity-acceleration determinati... |
| FAP | familial adenomatous polyposis; familial amyloid polyneuropathy; fatty acid polyunsaturated; fatty a... |
| FAC | Familial Amyloid Cardiomyopathy |
| FPLD | Familial partial lipodystrophy |
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| LD | Lipodystrophy |
| BFNC | Benign Familial Neonatal Convulsions |
| FAD | Familial Alzheimer's disease |
| FALS | Familial ALS |
| familial lipodystrophy | Autosomal dominant; partial lip associated with multifacial hypoplasin, retarded bone age, and hypotichosis. (05 Mar 2000) |
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| partial face-sparing lipodystrophy | A syndrome beginning at puberty that resembles total lipodystrophy but is inherited as an autosomal or X-linked dominant form. (05 Mar 2000) |
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| membranous lipodystrophy | A rare metabolic disease in which bone marrow fat cells are transformed into thick convoluted PAS-staining membranes enclosing weakly osmophilic material; leads to progressive cystic resorption of limb bones and dementia with sudanophilic leukodystrophy. (05 Mar 2000) |
| congenital total lipodystrophy | Lipodystrophy characterised by almost complete lack of subcutaneous fat, accelerated rate of growth and skeletal development during the first 3 to 4 years of life, muscular hypertrophy, cardiac enlargement, hepatosplenomegaly, hypertrichosis, renal enlargement, hypertriglyceridemia, and hypermetabolism; both autosomal dominant and X-linked varieties exist. (05 Mar 2000) |
| progressive lipodystrophy | A condition characterised by a complete loss of the subcutaneous fat of the upper part of the torso, the arms, neck, and face, sometimes with an increase of fat in the tissues about and below the pelvis. Synonym: Barraquer's disease, lipodystrophia progessiva superior, partial lipoatrophy, Simons' disease. (05 Mar 2000) |
| insulin lipodystrophy | Dystrophic atrophy of subcutaneous tissues in diabetics at the site of frequent injections of insulin. Synonym: insulin lipoatrophy. (05 Mar 2000) |
| intestinal lipodystrophy | <gastroenterology> A rare disorder of intestinal malabsorption that occurs as the result of the intestine. Treatment is with antibiotics. (27 Sep 1997) |
| lipodystrophy | 1. <biochemistry> Any disturbance of fat metabolism. 2. A group of conditions due to defective metabolism of fat, resulting in the absence of subcutaneous fat, which may be congenital or acquired and partial or total. Synonym: lipoatrophy, lipodystrophia. (18 Nov 1997) |
| benign familial chorea | A rare, nonprogressive movement disorder characterised by chorea and athetosis appearing in early childhood, most commonly manifested as gait ataxia and upper limb coordination. Intellect is unaffected. Probably autosomal-dominance inheritance with incomplete penetrance. (05 Mar 2000) |
| benign familial chronic pemphigus | Recurrent eruption of vesicles and bullae that become scaling and crusted lesions with vesicular borders, predominantly of the neck, groin, and axillary regions; autosomal dominant inheritance, presenting in late adolescence or early adult life. Synonym: Hailey-Hailey disease. (05 Mar 2000) |
| 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) |
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