# autosomal recessive osteopetrosis 7

> osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21

**Wikidata**: [Q32145086](https://www.wikidata.org/wiki/Q32145086)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-osteopetrosis-7


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000141655/MONDO_0012859)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000141655/Orphanet_178389)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)
8. UMLS 2023