# syndromic multisystem autoimmune disease due to ICTH deficiency

> human disease

**Wikidata**: [Q55784000](https://www.wikidata.org/wiki/Q55784000)  
**Source**: https://4ort.xyz/entity/syndromic-multisystem-autoimmune-disease-due-to-icth-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000078747/MONDO_0013245)
5. UMLS 2023