Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Q
Disease ID: disease_node_18898
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| Dbxref | ICD10CM:G71.0, MIM:613723, ORDO:254361 |
|---|---|
| Subclassof | DOID_0110274 |
| Data Source | DOID |
| Synonyms | LGMD2Q, autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency, muscular dystrophy, limb-girdle, type 2Q |
| Doid Label | autosomal recessive limb-girdle muscular dystrophy type 2Q |
| Doid Description | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene. |
| Disease Node Id | disease_node_18898 |
| Doid Id | DOID_0110285 |
| Label | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Q |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Limb-Girdle Muscular Dystrophy(ID:disease_node_18885) (Disease)