Muscular Dystrophy-Dystroglycanopathy Type B4
Disease ID: disease_node_17399
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| Dbxref | MIM:613152 |
|---|---|
| Subclassof | DOID_0112375, DOID_0050737 |
| Data Source | DOID |
| Synonyms | MDDGB4, congenital muscular dystrophy FKTN-related |
| Doid Label | muscular dystrophy-dystroglycanopathy type B4 |
| Doid Description | A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17399 |
| Doid Id | DOID_0112379 |
| Label | Muscular Dystrophy-Dystroglycanopathy Type B4 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Muscular Dystrophy-Dystroglycanopathy Type B(ID:disease_node_17397) (Disease)