# hereditary cryohydrocytosis with reduced stomatin

> human disease

**Wikidata**: [Q55783613](https://www.wikidata.org/wiki/Q55783613)  
**Source**: https://4ort.xyz/entity/hereditary-cryohydrocytosis-with-reduced-stomatin


## References

1. Monarch Disease Ontology release 2018-06-29
2. Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000117394/MONDO_0012143)
4. UMLS 2023