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Disease Ontology Browser
Fabry disease (DOID:14499)
Alliance: disease page
Synonyms: alpha galactosidase deficiency; Alpha-galactosidase A deficiency; Angiokeratoma Corporis Diffusum; deficiency of melibiase; Fabry Disease, Cardiac Variant; Fabry's disease
Alt IDs: OMIM:301500, ICD10CM:E75.21, MESH:D000795, NCI:C84701, UMLS_CUI:C0002986
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.

Disease References using Mouse Models (7)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory