Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
autoimmune disease |
| gptkbp:firstDescribed |
1985
Edward Blau |
| https://www.w3.org/2000/01/rdf-schema#label |
Blau syndrome
|
| gptkbp:ICD-10_code |
M04.2
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
NOD2 gene
|
| gptkbp:OMIM |
186580
|
| gptkbp:onset |
childhood
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
early-onset sarcoidosis
|
| gptkbp:symptom |
uveitis
dermatitis granulomatous arthritis |
| gptkbp:systemAffected |
gptkb:skin
eyes joints |
| gptkbp:treatment |
immunosuppressive therapy
corticosteroids biologic agents |
| gptkbp:bfsParent |
gptkb:P78527
|
| gptkbp:bfsLayer |
7
|