| Term Name: | mucopolysaccharidosis type IIID |
|---|---|
| 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 ) |