Muscular Dystrophy-Dystroglycanopathy Type C8
Disease ID: disease_node_17395
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| Dbxref | MIM:618135 |
|---|---|
| Subclassof | DOID_0112374, DOID_0050737 |
| Data Source | DOID |
| Synonyms | LGMDR24, MDDGC2, autosomal recessive limb-girdle muscular dystrophy 24, muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related |
| Doid Label | muscular dystrophy-dystroglycanopathy type C8 |
| Doid Description | A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17395 |
| Doid Id | DOID_0112382 |
| Label | Muscular Dystrophy-Dystroglycanopathy Type C8 |
- 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)