Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2T
Disease ID: disease_node_18891
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| Dbxref | ICD10CM:G71.0, MIM:615352, ORDO:363623 |
|---|---|
| Subclassof | DOID_0110274 |
| Data Source | DOID |
| Synonyms | LGMD2T, MDDGC14, muscular dystrophy limb-girdle type 2T, muscular dystrophy-dystroglycanopathy (limb-girdle) type C14, muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related |
| Doid Label | autosomal recessive limb-girdle muscular dystrophy type 2T |
| Doid Description | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21. |
| Disease Node Id | disease_node_18891 |
| Doid Id | DOID_0110294 |
| Label | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2T |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Limb-Girdle Muscular Dystrophy(ID:disease_node_18885) (Disease)