Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2U
Disease ID: disease_node_18890
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| Dbxref | ICD10CM:G71.0, MIM:616052, ORDO:352479 |
|---|---|
| Subclassof | DOID_0110274 |
| Data Source | DOID |
| Synonyms | LGMD2U, MDDGC7, autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency, muscular dystrophy limb-girdle type 2U, muscular dystrophy-dystroglycanopathy (limb-girdle) type C7 |
| Doid Label | autosomal recessive limb-girdle muscular dystrophy type 2U |
| Doid Description | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21. |
| Disease Node Id | disease_node_18890 |
| Doid Id | DOID_0110295 |
| Label | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2U |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Limb-Girdle Muscular Dystrophy(ID:disease_node_18885) (Disease)