# autosomal recessive limb-girdle muscular dystrophy type 2I

> 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

**Wikidata**: [Q22965446](https://www.wikidata.org/wiki/Q22965446)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2i


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000181027/MONDO_0011787)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)