| GAPO | growth retardation, alopecia, pseudo-anodontia, and optic atrophy [syndrome] |
|---|---|
| HRRI | heart rate retardation index |
| IUGR | intrauterine growth rate; intrauterine growth retardation |
| LEOPARD | lentigines, EKG abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia,... |
| retard | retardation, retarded |
| familial pseudoinflammatory macular degeneration | Macular degeneration that occurs during the fifth decade of life, with sudden development of a central scotoma in one eye followed rapidly by a similar lesion in the opposite eye; autosomal dominant inheritance. Synonym: Sorsby's macular degeneration. (05 Mar 2000) |
|---|---|
| familial pseudoinflammatory maculopathy | Familial macular degeneration resembling inflammatory changes. (05 Mar 2000) |
| familial pyridoxine-responsive anaemia | A rare autosomal recessive hereditary hypochromic anaemia; autosomal trait, responsive to pyridoxine. (05 Mar 2000) |
| familial recurrent polyserositis | familial paroxysmal polyserositis |
| familial screening | Screening directed at close relatives of probands with diseases that may lie latent, as in age-dependent dominant traits, or that may involve risk to progeny, as X-linked traits. (05 Mar 2000) |
| familial spinal muscular atrophy | Transmitted as autosomal recessive on chromosome 5q. Progressive dysfunction of the anterior horn cells in the spinal cord and brainstem cranial nerves with profound weakness and bulbar dysfunction occurring in the first two years of life. Three groups, based on age of clinical onset, are recognised. Synonym: familial spinal muscular atrophy, Hoffmann's muscular atrophy, infantile muscular atrophy, infantile progressive spinal muscular atrophy, progressive infantile spinal muscular atrophy, Werdnig-Hoffmann disease, Werdnig-Hoffmann muscular atrophy. (05 Mar 2000) |
| familial splenic anaemia | <disease> A chronic congenital disease of lipid metabolism caused by a deficiency of the beta-glucocerebrosidase enzyme. The defect is most common in Ashkenazi Jews. Clinical features are hepatosplenomegaly (enlargement of liver and spleen) and in severe early onset forms of the disease, with neurological dysfunction. Inheritance: autosomal recessive. (27 Sep 1997) |
| familial tremor | <neurology> A neurologic disorder that runs in families and manifests as tremor which typically increases with purposeful movements. Stimulant use can increase tremor. (27 Sep 1997) |
| familial white folded dysplasia | An autosomal dominant condition of the oral cavity characterised by soft, white or opalescent, thickened and corrugated folds of mucous membrane; other mucosal sites are occasionally involved simultaneously. Synonym: familial white folded dysplasia, oral epithelial nevus. (05 Mar 2000) |
| lipoprotein lipase deficiency, familial | A rare familial condition characterised by massive chylomicronaemia and decreased levels of other lipoproteins. It is due to deficiency of lipoprotein lipase, an alkaline triglyceride hydrolase which catalyses an important step in the extrahepatic removal of triglyceride-rich lipoproteins from the blood. (12 Dec 1998) |