# hereditary cryohydrocytosis with normal stomatin

> human disease

**Wikidata**: [Q55781516](https://www.wikidata.org/wiki/Q55781516)  
**Source**: https://4ort.xyz/entity/hereditary-cryohydrocytosis-with-normal-stomatin


## References

1. Monarch Disease Ontology release 2018-06-29
2. Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000004939/MONDO_0008494)
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000004939/Orphanet_398088)