# autosomal recessive limb-girdle muscular dystrophy type 2K

> autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1)

**Wikidata**: [Q1002195](https://www.wikidata.org/wiki/Q1002195)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2k


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000130714/MONDO_0012248)
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)