| MEN | Multiple Endocrine Neoplasia ; AD Trait 1. MEN Type I(= Wermer Syndro... |
|---|---|
| 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... |
| NF | Neuro-Fibromatosis = Von Recklinghausen's Disease NF 1; Neuro-Fibroma... |
| 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) |
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| 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) |
| familial | Occurring in families. An inherited disorder or trait. (27 Sep 1997) |
| familial adenomatous polyposis | <gastroenterology> Genetic disease with numerous precancerous polyps in the colon and rectum. Also called familial polyposis. (12 Dec 1998) |
| familial aggregation | <genetics> The occurrence of a trait in more members of a family than can be readily accounted for by chance; presumptive but not cogent evidence of the operation of genetic factors. (05 Mar 2000) |
| familial amyloid neuropathy | <neurology> A disorder in which various peripheral nerves are infiltrated with amyloid and their functions disturbed, an abnormal prealbumin is also formed and is present in the blood; characteristically, it begins during mid-life and is found largely in persons of Portuguese descent. Other rare clinical types occur. Inheritance: autosomal dominant. Synonym: familial amyloidosis, hereditary amyloidosis. (05 Mar 2000) |
| familial amyloidosis | <neurology> A disorder in which various peripheral nerves are infiltrated with amyloid and their functions disturbed, an abnormal prealbumin is also formed and is present in the blood; characteristically, it begins during mid-life and is found largely in persons of Portuguese descent. Other rare clinical types occur. Inheritance: autosomal dominant. Synonym: familial amyloidosis, hereditary amyloidosis. (05 Mar 2000) |
| familial aortic ectasia | <cardiology, syndrome> The concurrence as an autosomal dominant trait of bicuspid aortic valve often with premature calcification, ectasia and dissection of the aorta and, rarely, coarctation of the aorta. Superficially resembles the Marfan's syndrome. Synonym: familial aortic ectasia. (05 Mar 2000) |
| familial aortic ectasia syndrome | <cardiology, syndrome> The concurrence as an autosomal dominant trait of bicuspid aortic valve often with premature calcification, ectasia and dissection of the aorta and, rarely, coarctation of the aorta. Superficially resembles the Marfan's syndrome. Synonym: familial aortic ectasia. (05 Mar 2000) |
| familial bipolar mood disorder | <psychiatry> Bipolar mood disorder commonly inherited as an autosomal dominant trait and also occasionally as an X-linked one. (05 Mar 2000) |