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 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. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0008523 |
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altLabel |
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 Blau syndrome pediatric granulomatous arthritis granulomatosis, familial juvenile systemic |
|
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. |
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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 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 |
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label |
Blau syndrome |
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prefixIRI |
MONDO:0008523 |
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prefLabel |
Blau syndrome |
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seeAlso |
https://rarediseases.info.nih.gov/diseases/304/blau-syndrome |
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textual 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. |
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subClassOf |
http://purl.obolibrary.org/obo/MONDO_0023603 http://purl.obolibrary.org/obo/MONDO_0019338 |