# osteopetrosis

> an extremely rare inherited disorder whereby the bones harden, becoming denser, sometimes causing bones to dissolve and break, caused by malfunctioning osteoclasts’ inability to resorb bone

**Wikidata**: [Q1755568](https://www.wikidata.org/wiki/Q1755568)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Osteopetrosis)  
**Source**: https://4ort.xyz/entity/osteopetrosis


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. [Nuovo soggettario](https://thes.bncf.firenze.sbn.it/termine.php?id=57916)
3. Disease Ontology
4. Nuovo soggettario
5. Freebase Data Dumps. 2013
6. [Source](http://www.patient.co.uk/patientplus/o.htm)
7. NDF-RT
8. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis
9. Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)
11. UMLS 2023
12. Quora
13. [Human Phenotype Ontology](https://hpo.jax.org/app/browse/term/HP:0011002)
14. National Library of Israel Names and Subjects Authority File
15. GF WordNet
16. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)