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bn:01348904n
Noun Concept
Categories: Autoinflammatory syndromes, Genodermatoses
EN
Blau syndrome  ACUG  ARTHROCUTANEOUVEAL GRANULOMATOSIS  BLAU SYNDROME; BLAUS  BLAUS
EN
Blau Syndrome is an autosomal dominant genetic inflammatory disorder which affects the skin, eyes, and joints. Wikipedia
Definitions
Relations
Sources
EN
Blau Syndrome is an autosomal dominant genetic inflammatory disorder which affects the skin, eyes, and joints. Wikipedia
An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in mutations in the NOD2/CARD15 genes. Wikidata
IS A
rare disease
syndrome
periodic fever syndrome
GENETIC ASSOCIATION
NOD2
Wikipedia
EN
Blau syndrome
Wikidata
EN
Blau syndrome
Wikidata Alias
EN
ACUG, ARTHROCUTANEOUVEAL GRANULOMATOSIS, BLAU SYNDROME, BLAU SYNDROME; BLAUS, BLAUS, Granulomatosis, Familial, Blau Type, Granulomatosis, Familial Juvenile Systemic, Granulomatous arthritis of childhood, Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial, Jabs syndrome, Pediatric Granulomatous Arthritis, Synovitis, Granulomatous, With Uveitis and Cranial Neuropathies, Synovitis granulomatous with uveitis and cranial neuropathies

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