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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
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
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
404553
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404553
Vasculitis due to ADA2 deficiency
Disease
425120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425120
STING-associated vasculopathy with onset in infancy
Disease
280373
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280373
Rare pediatric systemic disease
Category
90291
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90291
Systemic sclerosis
Disease
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
220393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220393
Diffuse cutaneous systemic sclerosis
Clinical subtype
251332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251332
Unexplained long-lasting fever/inflammatory syndrome
Disease
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
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
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
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
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
324933
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324933
Mixed autoinflammatory and autoimmune syndrome
Category
619948
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619948
Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome
Disease
658946
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658946
Early-onset autoimmune disorder due to DOCK11 partial deficiency
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
300359
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300359
PLCG2-associated antibody deficiency and immune dysregulation
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
566067
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566067
CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction 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
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
Keratoendotheliitis 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
576349
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576349
NLRC4-related familial 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
617919
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617919
F12-associated cold autoinflammatory 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
324964
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324964
Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
Disease
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
294023
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023
Neonatal inflammatory skin and bowel disease
Disease
404546
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404546
DITRA
Disease
251523
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251523
Hyperzincemia and hypercalprotectinemia
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
251307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251307
Idiopathic recurrent pericarditis
Disease
476102
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476102
Hereditary pediatric Behçet-like disease
Disease
184
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=184
Cherubism
Malformation syndrome
425120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425120
STING-associated vasculopathy with onset in infancy
Disease
3243
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3243
Sweet syndrome
Disease
481671
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481671
Type 1 interferonopathy of childhood
Category
51
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51
Aicardi-Goutières syndrome
Disease
481662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481662
Familial Chilblain lupus
Disease
1855
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1855
Spondyloenchondrodysplasia
Malformation syndrome
300345
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300345
Autosomal systemic lupus erythematosus
Disease
324977
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324977
Proteasome-associated autoinflammatory syndrome
Disease
85191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85191
Singleton-Merten dysplasia
Malformation syndrome
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
84064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84064
Syndromic diarrhea
Disease
425120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425120
STING-associated vasculopathy with onset in infancy
Disease
85453
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85453
X-linked reticulate pigmentary disorder
Disease
404553
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404553
Vasculitis due to ADA2 deficiency
Disease
481665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481665
USP18 deficiency
Disease
619367
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619367
SAMD9L-associated autoinflammatory syndrome
Disease
329967
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329967
Intermittent hydrarthrosis
Disease