Creative Commons Attribution 4.0 International CC-BY-4.0 https://creativecommons.org/licenses/by/4.0/legalcode 280338 Orphanet classification of rare systemic or rheumatologic diseases of childhood 280342 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280342 Rare systemic or rheumatological disease of childhood Category 280369 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280369 Rare pediatric vasculitis Category 761 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=761 Immunoglobulin A vasculitis Disease 2331 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2331 Kawasaki disease Disease 3287 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3287 Takayasu arteritis Disease 1467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1467 Cogan syndrome Disease 767 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=767 Polyarteritis nodosa Disease 439737 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439737 Primary polyarteritis nodosa Clinical subtype 439729 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439729 Cutaneous polyarteritis nodosa Clinical subtype 439755 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439755 Single-organ polyarteritis nodosa Clinical subtype 439762 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439762 Systemic polyarteritis nodosa Clinical subtype 439746 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439746 Secondary polyarteritis nodosa Clinical subtype 36412 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36412 Hypocomplementemic urticarial vasculitis Disease 91138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91138 Cryoglobulinemic vasculitis Disease 93554 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93554 Mixed cryoglobulinemia type II Etiological subtype 93555 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93555 Mixed cryoglobulinemia type III Etiological subtype 156152 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis Clinical group 183 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183 Eosinophilic granulomatosis with polyangiitis Disease 727 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=727 Microscopic polyangiitis Disease 900 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=900 Granulomatosis with polyangiitis Disease 251328 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251328 Unclassified vasculitis Disease 404553 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404553 Deficiency of adenosine deaminase 2 Disease 425120 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425120 STING-associated vasculopathy with onset in infancy Disease 445197 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445197 Secondary vasculitis Category 48435 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48435 Postinfectious vasculitis Disease 251325 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251325 Drug-induced vasculitis Disease 280373 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280373 Rare pediatric systemic disease Category 797 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797 Sarcoidosis Disease 3165 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3165 Eosinophilic fasciitis Disease 90291 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90291 Systemic sclerosis Disease 220393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220393 Diffuse cutaneous systemic sclerosis Clinical subtype 220402 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220402 Limited cutaneous systemic sclerosis Clinical subtype 220407 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220407 Limited systemic sclerosis Clinical subtype 93552 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93552 Pediatric systemic lupus erythematosus Disease 93568 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93568 Juvenile polymyositis Disease 93672 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93672 Juvenile dermatomyositis Disease 251312 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251312 Overlapping connective tissue disease Clinical group 809 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=809 Mixed connective tissue disease Disease 251332 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251332 Unexplained long-lasting fever/inflammatory syndrome Disease 300359 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300359 PLCG2-associated antibody deficiency and immune dysregulation Disease 398091 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398091 Secondary neonatal autoimmune disease Category 391504 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391504 Transient neonatal myasthenia gravis Clinical subtype 398097 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398097 Neonatal antiphospholipid syndrome Disease 398109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398109 Neonatal autoimmune hemolytic anemia Disease 398117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398117 Neonatal dermatomyositis Disease 398124 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398124 Neonatal lupus erythematosus Disease 398127 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398127 Neonatal scleroderma Disease 438159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159 STAT3-related early-onset multisystem autoimmune disease Disease 444092 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444092 Autoimmune interstitial lung disease-arthritis syndrome Disease 444463 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency Disease 598363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598363 Multisystem inflammatory syndrome in children and adults Disease 337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337 Fibrodysplasia ossificans progressiva Disease 486955 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486955 Rare pediatric rheumatologic disease Category 92 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92 Juvenile idiopathic arthritis Clinical group 85410 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85410 Oligoarticular juvenile idiopathic arthritis Disease 85414 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85414 Systemic-onset juvenile idiopathic arthritis Disease 85436 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85436 Psoriasis-related juvenile idiopathic arthritis Disease 85438 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85438 Enthesitis-related juvenile idiopathic arthritis Disease 91140 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91140 Unspecified juvenile idiopathic arthritis Disease 404580 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404580 Polyarticular juvenile idiopathic arthritis Clinical group 85408 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis Disease 85435 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis Disease 955 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=955 Hajdu-Cheney syndrome Malformation syndrome 793 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=793 SAPHO syndrome Disease 73 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73 Gorham-Stout disease Malformation syndrome 29207 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29207 Reactive arthritis Disease 85193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85193 Idiopathic juvenile osteoporosis Malformation syndrome 319719 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319719 Autoinflammatory syndrome of childhood Category 3243 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3243 Sweet syndrome Disease 324933 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324933 Mixed autoinflammatory and autoimmune syndrome Category 300359 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300359 PLCG2-associated antibody deficiency and immune dysregulation Disease 324530 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Disease 329173 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Disease 619948 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency Disease 658946 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658946 Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency Disease 695807 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695807 Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome Disease 324939 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324939 Periodic fever syndrome of childhood Category 324924 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324924 Hereditary periodic fever syndrome Category 342 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=342 Familial Mediterranean fever Disease 32960 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32960 Tumor necrosis factor receptor 1 associated periodic syndrome Disease 208650 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208650 NLRP3-associated autoinflammatory disease Clinical group 575 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575 Muckle-Wells syndrome Disease 1451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1451 CINCA syndrome Disease 47045 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47045 Familial cold urticaria Disease 647815 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647815 Keratitis fugax hereditaria Disease 247868 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247868 NLRP12-associated hereditary periodic fever syndrome Disease 309025 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309025 Mevalonate kinase deficiency Disease 29 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29 Mevalonic aciduria Clinical subtype 343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=343 Hyperimmunoglobulinemia D with periodic fever Clinical subtype 436166 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome Disease 500062 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome Disease 566067 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome Disease 576349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576349 NLRC4-related familial cold autoinflammatory syndrome Disease 617919 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617919 F12-associated cold autoinflammatory syndrome Disease 652522 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome Disease 324960 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324960 Unexplained periodic fever syndrome of childhood Category 42642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42642 PFAPA syndrome Disease 324942 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324942 Pyogenic autoinflammatory syndrome of childhood Category 69126 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69126 PAPA syndrome Disease 77297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297 Majeed syndrome Disease 210115 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210115 Sterile multifocal osteomyelitis with periostitis and pustulosis Disease 251523 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251523 Hyperzincemia and hypercalprotectinemia Disease 294023 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023 Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome Disease 324964 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis Disease 404546 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404546 DITRA Disease 324950 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324950 Granulomatous autoinflammatory syndrome of childhood Category 90340 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340 Blau syndrome Disease 251304 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251304 Infantile onset panniculitis with uveitis and systemic granulomatosis Disease 324953 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324953 Unclassified autoinflammatory syndrome of childhood Category 117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117 Behçet disease Disease 184 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=184 Cherubism Malformation syndrome 251307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251307 Idiopathic recurrent pericarditis Disease 674762 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency Disease 481671 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481671 Type 1 interferonopathy of childhood Category 714429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714429 Pseudo-TORCH syndrome type 3 Disease 51 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51 Aicardi-Goutières syndrome Disease 1855 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1855 Spondyloenchondrodysplasia Malformation syndrome 84064 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84064 Trichohepatoenteric syndrome Disease 85191 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85191 Singleton-Merten dysplasia Malformation syndrome 85453 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85453 X-linked reticulate pigmentary disorder Disease 300345 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300345 Autosomal systemic lupus erythematosus Disease 319563 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Disease 324977 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324977 Proteasome-associated autoinflammatory syndrome Disease 404553 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404553 Deficiency of adenosine deaminase 2 Disease 425120 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425120 STING-associated vasculopathy with onset in infancy Disease 481662 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481662 Familial Chilblain lupus Disease 481665 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481665 Pseudo-TORCH syndrome type 2 Disease 619367 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619367 SAMD9L-associated autoinflammatory syndrome Disease 699605 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699605 NEMO deleted exon 5 autoinflammatory syndrome Disease 329967 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329967 Intermittent hydrarthrosis Disease 477650 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477650 Fibroblastic rheumatism Disease