Congenital Muscular Dystrophy-Dystroglycanopathy Type A3
Disease ID: disease_node_17408
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| Dbxref | MIM:253280 |
|---|---|
| Subclassof | DOID_0111229 |
| Data Source | DOID |
| Synonyms | MDDGA3, Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related, congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3 |
| Doid Label | congenital muscular dystrophy-dystroglycanopathy type A3 |
| Doid Description | A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1. |
| Disease Node Id | disease_node_17408 |
| Doid Id | DOID_0111236 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 |
- Outgoing r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy-Dystroglycanopathy Type A(ID:disease_node_17406) (Disease)