Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2I
Disease ID: disease_node_18886
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| Dbxref | ICD10CM:G71.0, MIM:607155, ORDO:34515 |
|---|---|
| Subclassof | DOID_0110274 |
| Data Source | DOID |
| Synonyms | LGMD2I, Limb-girdle muscular dystrophy due to FKRP deficiency, MDDGC5, muscular dystrophy limb-girdle type 2I, muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5, muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related |
| Doid Label | autosomal recessive limb-girdle muscular dystrophy type 2I |
| Doid Description | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3. |
| Disease Node Id | disease_node_18886 |
| Doid Id | DOID_0110299 |
| Label | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2I |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Limb-Girdle Muscular Dystrophy(ID:disease_node_18885) (Disease)