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Disease Ontology Browser
mucopolysaccharidosis III (DOID:12801)
Alliance: disease page
Synonyms: heparan sulfate sulfatase deficiency; Mucopolysaccharidosis, MPS-III; N-sulphoglucosamine sulphohydrolase deficiency; naglu deficiency; Sanfilippo's syndrome
Alt IDs: OMIM:252940, DOID:14729, DOID:14788, MESH:D009084, NCI:C61262, ORDO:581, UMLS_CUI:C0026706
Definition: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.

Disease References using Mouse Models (19)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory