Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2N
Disease ID: disease_node_18887
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| Dbxref | ICD10CM:G71.0, MIM:613158, ORDO:206559 |
|---|---|
| Subclassof | DOID_0110274 |
| Data Source | DOID |
| Synonyms | LGMD2N, muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2, muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related |
| Doid Label | autosomal recessive limb-girdle muscular dystrophy type 2N |
| Doid Description | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. |
| Disease Node Id | disease_node_18887 |
| Doid Id | DOID_0110298 |
| Label | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2N |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Limb-Girdle Muscular Dystrophy(ID:disease_node_18885) (Disease)