Term Name:	Fabry disease
Synonyms:	alpha galactosidase deficiency, Alpha-galactosidase A deficiency, Angiokeratoma Corporis Diffusum, deficiency of melibiase, Fabry Disease, Cardiac Variant, Fabry's disease
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.
Ontology:	Human Disease [DOID:14499]   ( DOID:14499 )