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DO Term : Blau syndrome [DOID:0050678] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene.
  • synonyms:
  • 186580,
  • MESH:C538157,
  • BLAUS,
  • GARD:304,
  • OMIM:186580,
  • NCI:C116794,
  • ARTHROCUTANEOUVEAL GRANULOMATOSIS,
  • Jabs syndrome
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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