# familial hypocalciuric hypercalcemia 1

> familial hypocalciuric hypercalcemia that has material basis in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21

**Wikidata**: [Q28024518](https://www.wikidata.org/wiki/Q28024518)  
**Source**: https://4ort.xyz/entity/familial-hypocalciuric-hypercalcemia-1


## References

1. Disease Ontology
2. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000036828/Orphanet_93372)
3. [Identifiers.org](https://registry.identifiers.org/registry/doid)
4. UMLS 2023