loading...| Preferred Name | Blau syndrome | |
| Synonyms |
synovitis, granulomatous, with uveitis and cranial neuropathies synovitis granulomatous with uveitis and cranial neuropathies ACUG granulomatosis, familial juvenile systemic Jabs syndrome paediatric granulomatous arthritis granulomatosis, familial, Blau type sarcoidosis, early-onset pediatric granulomatous arthritis granulomatous inflammatory arthritis, dermatitis, and uveitis, familial Blau syndrome early-onset sarcoidosis arthrocutaneouveal granulomatosis BLAUS EOS |
|
| Definitions |
Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008523 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0008523 |
|
| database_cross_reference |
OMIM:186580 UMLS:C5201146 ICD9:714.89 MEDGEN:1684759 SCTID:699861000 NCIT:C116794 NANDO:1200476 Orphanet:90340 DOID:0050678 MESH:C538157 OMIM:609464 icd11.foundation:382488319 NANDO:2200434 Orphanet:90341 MedDRA:10071755 GARD:304 ICD9:692.9 |
|
| definition |
Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease. |
|
| has_exact_synonym |
granulomatosis, familial juvenile systemic Jabs syndrome paediatric granulomatous arthritis granulomatosis, familial, Blau type sarcoidosis, early-onset pediatric granulomatous arthritis granulomatous inflammatory arthritis, dermatitis, and uveitis, familial Blau syndrome early-onset sarcoidosis arthrocutaneouveal granulomatosis BLAUS EOS |
|
| has_related_synonym |
synovitis, granulomatous, with uveitis and cranial neuropathies synovitis granulomatous with uveitis and cranial neuropathies ACUG |
|
| id |
MONDO:0008523 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Blau syndrome |
|
| notation |
MONDO:0008523 |
|
| preferred label |
Blau syndrome |
|
| prefLabel |
Blau syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/304/blau-syndrome |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/medgen/1684759 http://purl.obolibrary.org/obo/Orphanet_90340 http://purl.obolibrary.org/obo/NCIT_C116794 http://purl.obolibrary.org/obo/DOID_0050678 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/382488319 http://linkedlifedata.com/resource/umls/id/C5201146 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000589 http://www.ebi.ac.uk/efo/EFO_0005809 |
|
| excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019295 http://purl.obolibrary.org/obo/MONDO_0000426 |