# autosomal recessive osteopetrosis 4

> osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13

**Wikidata**: [Q32145059](https://www.wikidata.org/wiki/Q32145059)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-osteopetrosis-4


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000103249/MONDO_0012676)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)