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Blau syndrome
Summary
- Synonym
-
- ARTHROCUTANEOUVEAL GRANULOMATOSIS
- BLAUS
- Jabs syndrome
- Definition
- A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0050678
- Mondo Disease Ontology
- MeSH
- NCI Thesaurus
- OMIM
- GARD
