# Blau syndrome

> autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in mutations in the NOD2/CARD15 genes

**Wikidata**: [Q441077](https://www.wikidata.org/wiki/Q441077)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Blau_syndrome)  
**Source**: https://4ort.xyz/entity/blau-syndrome


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Disease Ontology
3. Monarch Disease Ontology release 2018-06-29
4. Freebase Data Dumps. 2013
5. UniProt
6. CARD15 mutations in Blau syndrome
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/1fd650d7-6a84-4b33-b86e-d34cab5b7d57--2020-10-07T17:18:07)
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1fd650d7-6a84-4b33-b86e-d34cab5b7d57-2020-10-07T171807.983Z)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000167207/MONDO_0008523)
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)