Preferred Name | Abetalipoproteinemia | |
Synonyms |
ABL |
|
Definitions |
(ABL) - An autosomal recessive disorder of lipoprotein metabolism. Affected individuals produce virtually no circulating apolipoprotein B-containing lipoproteins (chylomicrons, VLDL, LDL, lipoprotein(A)). Malabsorption of the antioxidant vitamin E occurs, leading to spinocerebellar and retinal degeneration. |
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ID |
http://identifiers.org/omim/200100 |
|
altLabel |
ABL |
|
definition |
(ABL) - An autosomal recessive disorder of lipoprotein metabolism. Affected individuals produce virtually no circulating apolipoprotein B-containing lipoproteins (chylomicrons, VLDL, LDL, lipoprotein(A)). Malabsorption of the antioxidant vitamin E occurs, leading to spinocerebellar and retinal degeneration. |
|
id |
OMIM:200100 |
|
notation |
OMIM:200100 |
|
prefLabel |
Abetalipoproteinemia |
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subClassOf |
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