Term Name: | galactosialidosis |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080540] ( DOID:0080540 ) |