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Concept information

Preferred term

Fabry disease

Type

  • Topic

Definition

  • Information 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.

Broader concept

In other languages

URI

https://lod.nal.usda.gov/nalt/299590

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RDF/XML TURTLE JSON-LD Created 5/5/17, last modified 11/10/17