Congenital Muscular Dystrophy-Dystroglycanopathy Type A11
Disease ID: disease_node_17414
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:615181 |
|---|---|
| Subclassof | DOID_0111229 |
| Data Source | DOID |
| Synonyms | MDDGA11, Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related, congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11 |
| Doid Label | congenital muscular dystrophy-dystroglycanopathy type A11 |
| Doid Description | A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3. |
| Disease Node Id | disease_node_17414 |
| Doid Id | DOID_0111230 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 |
- Outgoing r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy-Dystroglycanopathy Type A(ID:disease_node_17406) (Disease)