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mucopolysaccharidosis type IIID
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease mucopolysaccharidosis III
External Links
- Disease Ontology
- DOID:0111402
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P15586 | N-acetylglucosamine-6-sulfatase | |
| P51688 | N-sulphoglucosamine sulphohydrolase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001260 | Dysarthria |
| HP:0001263 | Global developmental delay |
| HP:0001272 | Cerebellar atrophy |
| HP:0001344 | Absent speech |
| HP:0001348 | Brisk reflexes |
| HP:0001385 | Hip dysplasia |
| HP:0001387 | Joint stiffness |
| HP:0001507 | Growth abnormality |
| HP:0001653 | Mitral regurgitation |
| HP:0001670 | Asymmetric septal hypertrophy |
