Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
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, Angiokeratoma Corporis Diffusum, Fabry's disease, alpha galactosidase deficiency, deficiency of melibiase

Xenbase Genes : gla

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

OMIM:
OMIM:301500 - FABRY DISEASE

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): sphingolipidosis (is_a)