# hereditary hyperferritinemia with congenital cataracts

> Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload

**Wikidata**: [Q55782879](https://www.wikidata.org/wiki/Q55782879)  
**Source**: https://4ort.xyz/entity/hereditary-hyperferritinemia-with-congenital-cataracts


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000087086/MONDO_0010952)
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)