# autosomal recessive limb-girdle muscular dystrophy type 2L

> autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14

**Wikidata**: [Q1531335](https://www.wikidata.org/wiki/Q1531335)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2l


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000171714/MONDO_0012652)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)