# arthrogryposis–renal dysfunction–cholestasis syndrome

> human disease

**Wikidata**: [Q4797658](https://www.wikidata.org/wiki/Q4797658)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Arthrogryposis–renal_dysfunction–cholestasis_syndrome)  
**Source**: https://4ort.xyz/entity/arthrogryposis-renal-dysfunction-cholestasis-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d38d685c-9aee-4660-9228-4119a4fd583d-2021-03-24T160534.056Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000184056/Orphanet_2697)
7. Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000151445/Orphanet_2697)
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)
10. UMLS 2023