# autosomal recessive limb-girdle muscular dystrophy type 2N

> autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3

**Wikidata**: [Q27677718](https://www.wikidata.org/wiki/Q27677718)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2n


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000009830/MONDO_0013162)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)