Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2K
Disease ID: disease_node_18888
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| Dbxref | ICD10CM:G71.0, MIM:609308, ORDO:86812 |
|---|---|
| Subclassof | DOID_0110274 |
| Data Source | DOID |
| Synonyms | LGMD2K, MDDGC1, limb-girdle muscular dystrophy-intellectual disability syndrome, muscular dystrophy limb-girdle type 2K, muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1 |
| Doid Label | autosomal recessive limb-girdle muscular dystrophy type 2K |
| Doid Description | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1). |
| Disease Node Id | disease_node_18888 |
| Doid Id | DOID_0110297 |
| Label | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2K |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Limb-Girdle Muscular Dystrophy(ID:disease_node_18885) (Disease)