Search Ontology:
Human Disease

Blau syndrome

Term ID
DOID:0050678
Synonyms
  • 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. (2)
References
Ontology
Human Disease   ( DOID:0050678 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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