Muscular Dystrophy-Dystroglycanopathy Type B2
Disease ID: disease_node_17398
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| Dbxref | MIM:613156 |
|---|---|
| Subclassof | DOID_0112375, DOID_0050737 |
| Data Source | DOID |
| Synonyms | MDDGB2, congenital muscular dystrophy POMT2-related |
| Doid Label | muscular dystrophy-dystroglycanopathy type B2 |
| Doid Description | A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17398 |
| Doid Id | DOID_0112380 |
| Label | Muscular Dystrophy-Dystroglycanopathy Type B2 |
- Outgoing r'ship
SUBCLASS_OFto/from Muscular Dystrophy-Dystroglycanopathy Type B(ID:disease_node_17397) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)