loading...| Preferred Name |
Blau syndrome |
| Synonyms |
Arthrocutaneouveal granulomatosis |
| ID |
http://purl.bioontology.org/ontology/MESH/C538157 |
| altLabel |
Arthrocutaneouveal granulomatosis Pediatric Granulomatous Arthritis Jabs syndrome Familial Granulomatosis, Blau Type Synovitis granulomatous with uveitis and cranial neuropathies Familial Juvenile Systemic Granulomatosis Granulomatosis, familial, Blau type Sarcoidosis, Early-Onset Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial Synovitis, Granulomatous, With Uveitis And Cranial Neuropathies Early-Onset Sarcoidosis Granulomatosis, familial juvenile systemic |
| cui |
C1861303 C1836122 |
| HM |
D001168 D014605 D012507 D013585 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D013585 http://purl.bioontology.org/ontology/MESH/D001168 |
| MDA |
20100825 |
| MeSH Frequency |
139 |
| MMR |
20200930 |
| notation |
C538157 |
| PI |
*CRANIAL NERVE DISEASES (2010-2015) |
| prefLabel |
Blau syndrome |
| SC |
3 |
| Scope Statement |
A rare hereditary disorder with autosomal dominant inheritance that is characterized by SKIN RASH; ARTHRITIS; and UVEITIS. Onset is typically in children under four years of age. SYNOVITIS, anterior UVEITIS, adhesion of the IRIS to the CORNEA, and permanent bending of the fingers and toes (camptodactyly) may also occur. A mutation in the NOD2 gene has been identified. OMIM: 186580 |
| TERMUI |
T744909 T841033 T841031 T744910 T744916 T744915 T744914 T744912 T841034 T744913 T807884 T841032 T803435 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |