# autosomal dominant osteopetrosis 2

> human disease

**Wikidata**: [Q32144976](https://www.wikidata.org/wiki/Q32144976)  
**Source**: https://4ort.xyz/entity/autosomal-dominant-osteopetrosis-2


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000103249/MONDO_0008156)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000103249/Orphanet_53)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)