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DO Term : galactosialidosis [DOID:0080540] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:256540,
  • GARD:3953,
  • 256540
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents