# hemochromatosis type 1

> hemochromatosis that has material basis in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22

**Wikidata**: [Q32146270](https://www.wikidata.org/wiki/Q32146270)  
**Source**: https://4ort.xyz/entity/hemochromatosis-type-1


## References

1. Disease Ontology
2. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000010704/EFO_0006513)
3. [Identifiers.org](https://registry.identifiers.org/registry/doid)
4. UMLS 2023
5. [Source](https://www.medicalrecords.com/health-a-to-z/hemochromatosis-definition/)