| 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) |
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| 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) |
| familiarization | The act or process of making familiar; the result of becoming familiar; as, familiarization with scenes of blood. Source: Websters Dictionary (01 Mar 1998) |
| familial aggregation |
the tendency for a trait to cluster in families; evidence for genetics in the disease etiology
출처: www-hsc.usc.edu/~dconti/notes/genetic_terms.htm
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| familial |
tending to occur repeatedly in family members, but is not genetic (inherited). Might indicate a susceptibility, or a common environmental influence.
출처: www.albertaradiosurgery.ca/faq/glossary/
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| familial adenomatous polyposis |
(FAP) or Gardner Syndrome. Characterized by the combination of polyps of the colon, extrabowel tumors and an abnormality of the retina of the eye. The disease is caused by a mutation in a gene and persons with the disease have a 50% chance of passing it to each of their children.
출처: www.usurg.com/Glossary_terms.htm
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| familial hypercholesterolemia |
For a very small number of people, high cholesterol levels, especially LDL cholesterol levels, are due to genetic problems with their LDL receptors ?the place where LDL cholesterol enters the blood cell. This is called familial hypercholesterolemia (FH). There are two types, heterozygous FH (in which one receptor on the blood cell has mutated) and homozygous (the blood cells have two mutated receptors). In heterozygous FH, LDL cholesterol levels can run as high as 350-500 mg/dL. ...
출처: www.crestor.com/c/glossary/
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| familial adenomatous polyposis |
A genetic syndrome predisposing a person to develop colorectal cancer
출처: cancernetwork.com/myths/colon/Col10.htm
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