Version: 8.0.0
Date: Tue Jan 28 2025
2 results
Disease Genes: ctsa-3.1 (Cel)

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: ctsa-3.1 (Cel)

galactosialidosis

Disease
Source: DOID:0080540
Definition: A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13.
Genes: ctsa-3.1 (Cel)