Version: 8.0.0
Date: Tue Jan 28 2025
2 results
Disease Genes: Gla (Mmu)

lysosomal storage disease

Disease
Source: DOID:3211
Definition: An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
Genes: Gla (Mmu)

Fabry disease

Disease
Source: DOID:14499
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.
Genes: Gla (Mmu)