Term Name: | mucopolysaccharidosis type IIID |
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Synonyms: | GNS deficiency, MPS IIID, MPS3D, Mucopolysaccharidosis type 3D, N-acetylglucosamine-6-sulfatase deficiency, Sanfilippo syndrome D, Sanfilippo syndrome type D |
Definition: | A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. |
Ontology: | Human Disease [DOID:0111402] ( DOID:0111402 ) |