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
Ontology
Human Disease   ( DOID:0080540 )
Relationships
is a type of
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Genes Involved
Zebrafish Models