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Summary Literature (0)
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 A deficiency, alpha galactosidase deficiency, Angiokeratoma Corporis Diffusum, deficiency of melibiase, Fabry Disease, Cardiac Variant, Fabry's disease

Xenbase Genes : gla

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010526 - Fabry disease

MIM:
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)