Blau syndrome
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.
MONDO:0000426
autosomal dominant disease
excluded_subClassOf
MONDO:0007179
autoimmune disease
excluded_subClassOf
MONDO:0018798
obsolete other genetic dermis disorder (obsolete MONDO:0018798)
excluded_subClassOf
MONDO:0019295
obsolete other dermis disorder (obsolete MONDO:0019295)
excluded_subClassOf
MONDO:0019338
sarcoidosis
is_a
MONDO:0023603
hereditary disorder of connective tissue
is_a
ACUG
related
BLAUS
exact
Blau syndrome
exact
EOS
exact
Jabs syndrome
exact
arthrocutaneouveal granulomatosis
exact
early-onset sarcoidosis
exact
granulomatosis, familial juvenile systemic
exact
granulomatosis, familial, Blau type
exact
granulomatous inflammatory arthritis, dermatitis, and uveitis, familial
exact
paediatric granulomatous arthritis
exact
pediatric granulomatous arthritis
exact
sarcoidosis, early-onset
exact
synovitis granulomatous with uveitis and cranial neuropathies
related