Mucopolysaccharidosis Iii
Disease ID: disease_node_5264
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| Dbxref | GARD:7074, ICD10CM:E76.22, MESH:D009084, MIM:252940, NCI:C84900, ORDO:79272, SNOMEDCT_US_2023_03_01:15892005, UMLS_CUI:C0086650 |
|---|---|
| Subclassof | DOID_0050737, DOID_12801 |
| Data Source | DOID, MESH |
| Synonyms | GNS deficiency, MPS IIID, MPS3D, Mucopolysaccharidosis type 3D, N-acetylglucosamine-6-sulfatase deficiency, Sanfilippo syndrome D, Sanfilippo syndrome type D |
| Mesh Id | D009084 |
| Mesh Label | Mucopolysaccharidosis III |
| Mesh Subclassof | D009083 |
| Doid Label | mucopolysaccharidosis type IIID |
| Doid Description | A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_5264 |
| Doid Id | DOID_0111402 |
| Label | Mucopolysaccharidosis Iii |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)