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Preferred Term:

Fabry disease

Definition:
An X-linked inherited metabolic disease caused by a deficiency of lysosomal alpha-galactosidase A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other glycosphingolipids in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
Concept Schemes:
NALT Full
Broader Concept:
URI:
https://lod.nal.usda.gov/nalt/299590
Download this Concept:
RDF/XMLCreated 2017-05-05, last modified 2017-11-10