Mucopolysaccharidosis Vi
Disease ID: disease_node_5274
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| Dbxref | GARD:7095, MESH:D009087, MIM:253200, NCI:C61264, SNOMEDCT_US_2023_03_01:69463008, UMLS_CUI:C0026709 |
|---|---|
| Subclassof | DOID_12798 |
| Data Source | DOID, MESH |
| Synonyms | MPS VI - Maroteaux-Lamy syndrome, Maroteaux - Lamy syndrome, Maroteaux-Lamy syndrome, arylsulfatase B deficiency, deficiency of N-acetylgalactosamine-4-sulfatase |
| Mesh Id | D009087 |
| Mesh Label | Mucopolysaccharidosis VI |
| Mesh Subclassof | D009083 |
| Doid Label | mucopolysaccharidosis VI |
| Doid Description | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_5274 |
| Doid Id | DOID_12800 |
| Label | Mucopolysaccharidosis Vi |
- Outgoing r'ship
SUBCLASS_OFto/from Mucopolysaccharidoses(ID:disease_node_5259) (Disease)