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

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

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.

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

has_related_synonym

synovitis, granulomatous, with uveitis and cranial neuropathies

synovitis granulomatous with uveitis and cranial neuropathies

ACUG

label

Blau syndrome

prefixIRI

MONDO:0008523

prefLabel

Blau syndrome

seeAlso

https://rarediseases.info.nih.gov/diseases/304/blau-syndrome

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.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0023603

http://purl.obolibrary.org/obo/MONDO_0019338

http://purl.obolibrary.org/obo/MONDO_0007179

http://purl.obolibrary.org/obo/MONDO_0015135

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