Human genes for Fabry disease
Fabry disease [DOID:14499]
Fabry disease (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency) is a rare X-linked recessive (inherited) lysosomal storage disease, which can cause a wide range of systemic symptoms. The disease is named after one of its discoverers, Johannes Fabry (June 1, 1860–June 29, 1930).
Synonyms: Fabry disease, DOID:14499, Fabry disorder, Fabry syndrome, Alpha-galactosidase A deficiency ...