Search Ontology:
Human Disease
galactosialidosis
- Term ID
- DOID:0080540
- 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. (2)
- References
-
- GARD:3953
- MIM:256540
- Ontology
- Human Disease ( DOID:0080540 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models