DISEASES

Disease-gene associations mined from literature

JensenLab

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