# autosomal recessive osteopetrosis 3

> osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21

**Wikidata**: [Q32145020](https://www.wikidata.org/wiki/Q32145020)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-osteopetrosis-3


## References

1. Disease Ontology
2. [Source](https://www.kegg.jp/entry/H00241)
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000104267/Orphanet_2785)
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)
5. UMLS 2023