# muscular dystrophy-dystroglycanopathy type B6

> human disease

**Wikidata**: [Q32139666](https://www.wikidata.org/wiki/Q32139666)  
**Source**: https://4ort.xyz/entity/muscular-dystrophy-dystroglycanopathy-type-b6


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000133424/MONDO_0012138)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)