Muscular Dystrophy-Dystroglycanopathy Type C12
Disease ID: disease_node_17396
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| Dbxref | MIM:616094, ORDO:445110 |
|---|---|
| Subclassof | DOID_0112374, DOID_0050737 |
| Data Source | DOID |
| Synonyms | LGMD due to POMK deficiency, Limb-girdle muscular dystrophy due to POMK deficiency, MDDGC12, muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related |
| Doid Label | muscular dystrophy-dystroglycanopathy type C12 |
| Doid Description | A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17396 |
| Doid Id | DOID_0112381 |
| Label | Muscular Dystrophy-Dystroglycanopathy Type C12 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Muscular Dystrophy-Dystroglycanopathy(ID:disease_node_17394) (Disease)