| Metadata | |
|---|---|
| ID | DOID:0110299 |
| Name | autosomal recessive limb-girdle muscular dystrophy type 2I |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/11592034 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
LGMD2I [EXACT] Limb-girdle muscular dystrophy due to FKRP deficiency [EXACT] MDDGC5 [EXACT] muscular dystrophy limb-girdle type 2I [EXACT] muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 [EXACT] muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related [EXACT] |
| Parent Relationships |