Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2H
Disease ID: disease_node_18901
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| Dbxref | ICD10CM:G71.0, MIM:254110, ORDO:1878 |
|---|---|
| Subclassof | DOID_0110274 |
| Data Source | DOID |
| Synonyms | LGMD2H, limb-girdle muscular dystrophy due to TRIM32 deficiency, muscular dystrophy Hutterite type, sarcotubular myopathy |
| Doid Label | autosomal recessive limb-girdle muscular dystrophy type 2H |
| Doid Description | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q. |
| Disease Node Id | disease_node_18901 |
| Doid Id | DOID_0110282 |
| Label | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2H |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Limb-Girdle Muscular Dystrophy(ID:disease_node_18885) (Disease)