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Disease Ontology Browser
Blau syndrome (DOID:0050678)
Alliance: disease page
Synonyms: ARTHROCUTANEOUVEAL GRANULOMATOSIS; BLAUS; Jabs syndrome
Alt IDs: OMIM:186580, NCI:C116794
Definition: A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/27/2022
MGI 6.21
The Jackson Laboratory