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DOID:0111402 - mucopolysaccharidosis type IIID
Disease Ontology Definition:A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3.
Synonyms: GNS deficiency, MPS IIID, MPS3D, Mucopolysaccharidosis type 3D, N-acetylglucosamine-6-sulfatase deficiency, Sanfilippo syndrome D, Sanfilippo syndrome type D,
Echinobase Genes
![Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries](img/icons/info1.png)
MIM:252940 - mucopolysaccharidosis, type iiid; mps3d |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee