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Metadata
ID DOID:0080540
Name galactosialidosis
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.
https://ghr.nlm.nih.gov/condition/galactosialidosis, https://www.ncbi.nlm.nih.gov/pubmed/28603679
Xrefs

GARD:3953

OMIM:256540

Parent Relationships

is_a lysosomal storage disease

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