# autosomal recessive osteopetrosis 6

> osteopetrosis characterized by autosomal recessive inheritance of that has material basis in mutation in the PLEKHM1 gene on chromosome 17q21.31

**Wikidata**: [Q32145072](https://www.wikidata.org/wiki/Q32145072)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-osteopetrosis-6


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)
6. UMLS 2023