Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2O
Disease ID: disease_node_18893
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| Dbxref | ICD10CM:G71.0, MIM:613157, ORDO:206564 |
|---|---|
| Subclassof | DOID_0110274 |
| Data Source | DOID |
| Synonyms | LGMD2O, MDDGC3, muscular dystrophy-dystroglycanopathy (limb-girdle) type C3, muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related |
| Doid Label | autosomal recessive limb-girdle muscular dystrophy type 2O |
| Doid Description | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. |
| Disease Node Id | disease_node_18893 |
| Doid Id | DOID_0110292 |
| Label | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2O |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Limb-Girdle Muscular Dystrophy(ID:disease_node_18885) (Disease)