| familial centrolobar s. |
Pelizaeus-Merzbacher disease.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| familial chloride d. |
severe watery diarrhea with an excess of chloride in the stool, beginning in early infancy and marked by distended abdomen, lethargy, and retarded growth and mental development. It is accompanied by alkalosis and hypokalemia, and maternal hydramnios is often associated. The disorder is due to impairment of chloride-bicarbonate exchange in the lower bowel. Called also congenital chloride d. and familial chloridorrhea.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| familial colloid d. |
Doyne's familial honeycombed choroiditis.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| familial combined h. |
an autosomal dominant disorder of lipoprotein metabolism manifest in adulthood as hypercholesterolemia (type II-a hyperlipoproteinemia phenotype), hypertriglyceridemia (type IV hyperlipoproteinemia phenotype), or a combination (type II-b hyperlipoproteinemia phenotype); different phenotypes may succeed each other in a single individual. The disorder is characterized by greatly elevated plasma apolipoprotein B and premature coronary atherosclerosis, but only rarely by xanthomas. Called also multiple lipoprotein–type h. See also table of hyperlipoproteinemias.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| familial d. |
an autosomal recessive disease of childhood characterized by defective lacrimation, skin blotching, emotional instability, motor incoordination, total absence of pain sensation, and hyporeflexia; seen almost exclusively in Ashkenazi Jews. Called also familial autonomic dysfunction, Riley-Day syndrome, hereditary sensory and autonomic neuropathy (type III), and HSAN-III.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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