Human genes for Fabry disease
Fabry disease [DOID:14499]
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: Fabry disease, DOID:14499, Fabry disorder, Fabry syndrome, Fabry diseases ...
Linkouts: OMIM