has material basis in germline mutation in NOD2 autosomal dominant disease autoimmune disease Blau syndrome https://github.com/monarch-initiative/mondo/issues/9285 https://rarediseases.info.nih.gov/diseases/304/blau-syndrome https://www.malacards.org/card/blau_syndrome NANDO:1200476 MEDGEN:1684759 EOS granulomatous inflammatory arthritis, dermatitis, and uveitis, familial arthrocutaneouveal granulomatosis icd11.foundation:382488319 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. BLAUS paediatric granulomatous arthritis Blau syndrome OMIM:186580 pediatric granulomatous arthritis ICD9:714.89 MESH:C538157 DOID:0050678 GARD:0000304 Jabs syndrome granulomatosis, familial juvenile systemic ACUG sarcoidosis, early-onset Orphanet:90340 Orphanet:90341 MedDRA:10071755 MONDO:0008523 ICD9:692.9 NANDO:2200434 synovitis granulomatous with uveitis and cranial neuropathies UMLS:C5201146 NCIT:C116794 granulomatosis, familial, Blau type SCTID:699861000 OMIM:609464 early-onset sarcoidosis obsolete other genetic dermis disorder obsolete other dermis disorder sarcoidosis hereditary disorder of connective tissue