# autosomal recessive limb-girdle muscular dystrophy type 2O

> autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34

**Wikidata**: [Q1531337](https://www.wikidata.org/wiki/Q1531337)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2o


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000085998/MONDO_0013161)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)