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Metadata
DOID DOID:0050678
Name Blau syndrome
Definition An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in mutations in the NOD2/CARD15 genes.
http://en.wikipedia.org/wiki/Blau_syndrome, http://www.omim.org/entry/186580?search=186580&highlight=186580
Xrefs

GARD:304

NCI:C116794

OMIM:186580

Subsets

NCIthesaurus

Synonyms

ARTHROCUTANEOUVEAL GRANULOMATOSIS [EXACT]

Jabs syndrome [EXACT]

Relationships

is_a autosomal dominant disease

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