OBO ID: DOID:0050678
Term Name: Blau syndrome Search Ontology:
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 Blau syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NOD2 Blau syndrome 186580
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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