| Metadata | |
|---|---|
| ID | DOID:0111402 |
| Name | mucopolysaccharidosis type IIID |
| Definition | A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. https://www.ncbi.nlm.nih.gov/pubmed/12573255 |
| Xrefs |
SNOMEDCT_US_2023_03_01:15892005 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
GNS deficiency [EXACT] MPS IIID [EXACT] MPS3D [EXACT] Mucopolysaccharidosis type 3D [EXACT] N-acetylglucosamine-6-sulfatase deficiency [EXACT] Sanfilippo syndrome D [EXACT] Sanfilippo syndrome type D [EXACT] |
| Parent Relationships |