Concept information
- Fields of Study
- animal and human health
- diseases and disorders (animals and humans)
- noninfectious diseases
- genetic disorders
- Animals, Livestock, One Health
- animal and human health
- diseases and disorders (animals and humans)
- noninfectious diseases
- genetic disorders
- Fields of Study
- mathematics and statistics
- diseases and disorders (animal and human)
- noninfectious diseases
- genetic disorders
Preferred term
Fabry disease
Type
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Topic
Definition
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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.
Source: Medical Subject Headings 2017
Type: Concept definition
Broader concept
In other languages
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Spanish
URI
https://lod.nal.usda.gov/nalt/299590
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