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Disease Ontology Browser
mucopolysaccharidosis type IIID (DOID:0111402)
Alliance: disease page
Synonyms: GNS deficiency; MPS3D; MPS IIID; Mucopolysaccharidosis type 3D; N-acetylglucosamine-6-sulfatase deficiency; Sanfilippo syndrome D; Sanfilippo syndrome type D
Alt IDs: OMIM:252940, ICD10CM:E76.22, MESH:D009084, NCI:C84900, ORDO:79272, UMLS_CUI:C0086650
Definition: A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3.


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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last database update
01/31/2023
MGI 6.22
The Jackson Laboratory