Fabry disease ICD10CM:E75.21 Alpha-galactosidase A deficiency Fabry Disease, Cardiac Variant Fabry's disease yes UMLS_CUI:C0002986 OMIM mapping confirmed by DO. [SN]. 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. Angiokeratoma Corporis Diffusum OMIM:301500 MESH:D000795 DOID:14499 SNOMEDCT_US_2022_09_01:16652001 NCI:C84701 GARD:6400 alpha galactosidase deficiency deficiency of melibiase disease_ontology metabolic syndrome