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Echinobase
Summary Literature (0)
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 : gns


OMIM:
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
Parent(s): autosomal recessive disease (is_a), mucopolysaccharidosis III (is_a)