# autosomal recessive osteopetrosis 5

> osteopetrosis characterized by autosomal recessive inheritance that has material basis in mutation in the OSTM1 gene on chromosome 6q21

**Wikidata**: [Q32144989](https://www.wikidata.org/wiki/Q32144989)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-osteopetrosis-5


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)