| 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 | |
| Subsets |
DO_rare_slim |
| Parent Relationships |