Mucopolysaccharidosis Vii
Disease ID: disease_node_8782
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E76.29, MESH:D016538, MIM:253220, NCI:C84903, SNOMEDCT_US_2023_03_01:43916004, UMLS_CUI:C0085132 |
|---|---|
| Subclassof | DOID_12798 |
| Data Source | DOID, MESH |
| Synonyms | MPS VII - Sly syndrome, beta-glucuronidase deficiency, deficiency of beta-glucuronidase, mucopolysaccharidosis VII |
| Mesh Id | D016538 |
| Mesh Label | Mucopolysaccharidosis VII |
| Mesh Subclassof | D009083 |
| Doid Label | Sly syndrome |
| Doid Description | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_8782 |
| Doid Id | DOID_12803 |
| Label | Mucopolysaccharidosis Vii |
- Outgoing r'ship
SUBCLASS_OFto/from Mucopolysaccharidoses(ID:disease_node_5259) (Disease)