Congenital Muscular Dystrophy-Dystroglycanopathy Type A1
Disease ID: disease_node_17407
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| Dbxref | MIM:236670 |
|---|---|
| Subclassof | DOID_0111229 |
| Data Source | DOID |
| Synonyms | MDDGA1, Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related, congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1 |
| Doid Label | congenital muscular dystrophy-dystroglycanopathy type A1 |
| Doid Description | A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13. |
| Disease Node Id | disease_node_17407 |
| Doid Id | DOID_0111237 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 |
- Outgoing r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy-Dystroglycanopathy Type A(ID:disease_node_17406) (Disease)