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DOID:14499 - Fabry disease
Disease 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.
Synonyms: alpha galactosidase deficiency, Alpha-galactosidase A deficiency, Angiokeratoma Corporis Diffusum, deficiency of melibiase, Fabry's disease, Fabry Disease, Cardiac Variant
Echinobase Genes

MIM:301500 - fabry disease |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
sphingolipidosis (is_a)