| Metadata | |
|---|---|
| ID | DOID:0050678 |
| Name | Blau syndrome |
| Definition | A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. http://www.omim.org/entry/186580?search=186580&highlight=186580, http://en.wikipedia.org/wiki/Blau_syndrome |
| Xrefs | |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
ARTHROCUTANEOUVEAL GRANULOMATOSIS [EXACT] BLAUS [EXACT] Jabs syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |