loading...| Preferred Name | Blau syndrome | |
| Synonyms |
synovitis, granulomatous, with uveitis and cranial neuropathies synovitis granulomatous with uveitis and cranial neuropathies ACUG sarcoidosis, early-onset early-onset sarcoidosis granulomatous inflammatory arthritis, dermatitis, and uveitis, familial Jabs syndrome EOS arthrocutaneouveal granulomatosis granulomatosis, familial, Blau type BLAUS paediatric granulomatous arthritis Blau syndrome pediatric granulomatous arthritis granulomatosis, familial juvenile systemic |
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| 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 |
|
| closeMatch | ||
| database_cross_reference |
ICD9:692.9 SCTID:699861000 Orphanet:90341 MESH:C538157 MedDRA:10071755 UMLS:C5201146 DOID:0050678 ICD9:714.89 Orphanet:90340 OMIM:186580 OMIM:609464 GARD:304 NCIT:C116794 |
|
| 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. |
|
| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_90340 http://purl.obolibrary.org/obo/NCIT_C116794 http://purl.obolibrary.org/obo/DOID_0050678 http://linkedlifedata.com/resource/umls/id/C5201146 |
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| has material basis in germline mutation in | ||
| has_exact_synonym |
sarcoidosis, early-onset early-onset sarcoidosis granulomatous inflammatory arthritis, dermatitis, and uveitis, familial Jabs syndrome EOS arthrocutaneouveal granulomatosis granulomatosis, familial, Blau type BLAUS paediatric granulomatous arthritis Blau syndrome pediatric granulomatous arthritis granulomatosis, familial juvenile systemic |
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| 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#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
| label |
Blau syndrome |
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| notation |
MONDO:0008523 |
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| prefLabel |
Blau syndrome |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/304/blau-syndrome |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0023603 |
|
| excluded subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019295 http://purl.obolibrary.org/obo/MONDO_0000426 |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0023603 |