|OBO ID: DOID:14499|
|Term Name:||Fabry disease||Search Ontology:|
|Definition:||A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22. https://ghr.nlm.nih.gov/condition/fabry-disease|
|Ontology:||Human Disease (DOID:14499)|
|is a type of:||
OTHER Fabry disease PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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