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162955
Orphanet classification of rare systemic and rheumatological diseases
98023
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98023
Rare systemic or rheumatologic disease
Category
658
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658
Non-histaminic angioedema
Clinical group
91378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91378
Hereditary angioedema
Clinical group
528623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528623
Hereditary angioedema with C1Inh deficiency
Disease
100050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100050
Hereditary angioedema type 1
Etiological subtype
100051
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100051
Hereditary angioedema type 2
Etiological subtype
528647
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528647
Hereditary angioedema with normal C1Inh
Disease
100054
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100054
F12-related hereditary angioedema with normal C1Inh
Clinical subtype
537072
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=537072
PLG-related hereditary angioedema with normal C1Inh
Clinical subtype
599418
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599418
Hereditary angioedema with normal C1Inh not related to F12 or PLG variant
Clinical subtype
91385
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91385
Acquired angioedema
Clinical group
528663
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528663
Acquired angioedema with C1Inh deficiency
Disease
100055
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100055
Acquired angioedema type 2
Clinical subtype
100056
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100056
Acquired angioedema type 1
Clinical subtype
100057
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100057
Renin-angiotensin-aldosterone system-blocker-induced angioedema
Disease
52759
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52759
Vasculitis
Category
156140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156140
Predominantly large-vessel vasculitis
Clinical group
26137
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26137
Juvenile temporal arteritis
Disease
117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117
Behçet disease
Disease
3287
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3287
Takayasu arteritis
Disease
397
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397
Giant cell arteritis
Disease
1467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1467
Cogan syndrome
Disease
228116
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228116
Hughes-Stovin syndrome
Disease
156143
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156143
Predominantly medium-vessel vasculitis
Clinical group
2331
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2331
Kawasaki disease
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
36258
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36258
Buerger disease
Disease
140989
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140989
Primary angiitis of the central nervous system
Disease
404553
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404553
Vasculitis due to ADA2 deficiency
Disease
596753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596753
VEXAS syndrome
Disease
156146
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156146
Predominantly small-vessel vasculitis
Clinical group
140989
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140989
Primary angiitis of the central nervous system
Disease
375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=375
Anti-glomerular basement membrane disease
Disease
156149
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156149
Immune complex mediated vasculitis
Category
761
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=761
Immunoglobulin A vasculitis
Disease
889
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=889
Cutaneous small vessel vasculitis
Disease
36412
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36412
Hypocomplementemic urticarial vasculitis
Disease
90000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90000
Erythema elevatum diutinum
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
425120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425120
STING-associated vasculopathy with onset in infancy
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
182222
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182222
Rare systemic disease
Category
230857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230857
Ehlers-Danlos/osteogenesis imperfecta syndrome
Disease
90051
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90051
Sepsis in premature infants
Particular clinical situation in a disease or syndrome
521450
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521450
LAMA5-related multisystemic syndrome
Disease
3099
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3099
Rheumatic fever
Disease
774
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774
Hereditary hemorrhagic telangiectasia
Disease
69
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69
Amyloidosis
Category
85443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443
AL amyloidosis
Disease
314701
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701
Primary systemic amyloidosis
Clinical subtype
314709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314709
Primary localized amyloidosis
Clinical subtype
85445
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85445
AA amyloidosis
Disease
85448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85448
AGel amyloidosis
Disease
85450
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85450
Hereditary amyloidosis with primary renal involvement
Disease
93560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93560
AApoAI amyloidosis
Clinical subtype
93561
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93561
ALys amyloidosis
Clinical subtype
93562
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93562
AFib amyloidosis
Clinical subtype
238269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238269
AApoAII amyloidosis
Clinical subtype
85458
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85458
Hereditary cerebral hemorrhage with amyloidosis
Disease
100006
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100006
ABeta amyloidosis, Dutch type
Clinical subtype
100008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100008
ACys amyloidosis
Clinical subtype
324703
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324703
ABetaL34V amyloidosis
Clinical subtype
324708
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324708
ABeta amyloidosis, Iowa type
Clinical subtype
324713
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324713
ABeta amyloidosis, Italian type
Clinical subtype
324718
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324718
ABetaA21G amyloidosis
Clinical subtype
324723
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324723
ABeta amyloidosis, Arctic type
Clinical subtype
271861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271861
Hereditary ATTR amyloidosis
Clinical group
85447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85447
ATTRV30M amyloidosis
Disease
85451
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85451
ATTRV122I amyloidosis
Disease
330001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330001
Wild type ATTR amyloidosis
Disease
439224
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439224
ALECT2 amyloidosis
Disease
439232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439232
AApoAIV amyloidosis
Disease
439246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439246
ABeta2M amyloidosis
Clinical group
85446
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85446
Wild type ABeta2M amyloidosis
Disease
314652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314652
Variant ABeta2M amyloidosis
Disease
439254
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439254
ITM2B amyloidosis
Disease
97345
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97345
ABri amyloidosis
Clinical subtype
97346
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97346
ADan amyloidosis
Clinical subtype
442582
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442582
AH amyloidosis
Disease
797
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797
Sarcoidosis
Disease
3018
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3018
Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
Malformation syndrome
2582
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2582
Myalgia-eosinophilia syndrome associated with tryptophan
Malformation syndrome
389
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=389
Langerhans cell histiocytosis
Disease
3096
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3096
Reye syndrome
Disease
764
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=764
Pyomyositis
Disease
482
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482
Kimura disease
Disease
188
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=188
Systemic capillary leak syndrome
Disease
722
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=722
Hypoplasminogenemia
Disease
50918
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50918
Kikuchi-Fujimoto disease
Disease
85453
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85453
X-linked reticulate pigmentary disorder
Disease
98249
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98249
Ehlers-Danlos syndrome
Clinical group
287
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=287
Classical Ehlers-Danlos syndrome
Disease
2953
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953
Musculocontractural Ehlers-Danlos syndrome
Disease
285
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285
Hypermobile Ehlers-Danlos syndrome
Disease
286
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=286
Vascular Ehlers-Danlos syndrome
Disease
536545
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536545
Kyphoscoliotic Ehlers-Danlos syndrome
Disease
1900
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1900
Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Clinical subtype
300179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300179
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
Clinical subtype
1899
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1899
Arthrochalasia Ehlers-Danlos syndrome
Disease
1901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1901
Dermatosparaxis Ehlers-Danlos syndrome
Disease
75392
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75392
Periodontal Ehlers-Danlos syndrome
Disease
536471
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536471
Spondylodysplastic Ehlers-Danlos syndrome
Disease
75496
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
Clinical subtype
536467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
Clinical subtype
157965
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965
SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
Clinical subtype
75497
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75497
X-linked Ehlers-Danlos syndrome
Disease
90354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90354
Brittle cornea syndrome
Disease
536516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536516
Myopathic Ehlers-Danlos syndrome
Disease
230839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230839
Classical-like Ehlers-Danlos syndrome type 1
Disease
230851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230851
Cardiac-valvular Ehlers-Danlos syndrome
Disease
536532
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536532
Classical-like Ehlers-Danlos syndrome type 2
Disease
636941
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636941
Vascular Ehlers-Danlos-polymicrogyria syndrome
Disease
158061
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158061
Macrophage activation syndrome
Clinical syndrome
182228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182228
Systemic autoimmune disease
Category
536
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536
Systemic lupus erythematosus
Disease
481662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481662
Familial Chilblain lupus
Disease
247691
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247691
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Disease
779
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=779
Reynolds syndrome
Disease
728
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=728
Relapsing polychondritis
Disease
98482
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98482
Idiopathic inflammatory myopathy
Category
206569
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206569
Immune-mediated necrotizing myopathy
Disease
3165
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3165
Eosinophilic fasciitis
Disease
81
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=81
Antisynthetase syndrome
Disease
48918
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48918
Focal myositis
Disease
611
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611
Inclusion body myositis
Disease
732
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=732
Polymyositis
Disease
221
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221
Dermatomyositis
Disease
645617
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645617
Amyopathic dermatomyositis
Clinical subtype
645626
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645626
Adermatopathic dermatomyositis
Clinical subtype
645613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645613
Classical dermatomyositis
Clinical subtype
206572
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206572
Overlap myositis
Disease
247724
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247724
Idiopathic eosinophilic myositis
Disease
329888
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329888
Juvenile idiopathic inflammatory myopathy
Category
93672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93672
Juvenile dermatomyositis
Disease
329894
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329894
Juvenile overlap myositis
Disease
93568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93568
Juvenile polymyositis
Disease
247718
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247718
Inflammatory myopathy with abundant macrophages
Disease
90002
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90002
Undifferentiated connective tissue syndrome
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
91139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91139
Simple cryoglobulinemia
Disease
93552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93552
Pediatric systemic lupus erythematosus
Disease
228426
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426
Syndromic multisystem autoimmune disease due to Itch deficiency
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
284264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284264
IgG4-related disease
Clinical group
451602
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451602
Primary cutaneous plasmacytosis
Disease
555437
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555437
Lymphoplasmacytic inflammatory pseudotumor of the liver
Clinical subtype
449566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449566
Eosinophilic angiocentric fibrosis
Disease
451607
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451607
Cutaneous pseudolymphoma
Disease
596448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596448
IgG4-related systemic disease
Disease
49041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49041
IgG4-related retroperitoneal fibrosis
Clinical subtype
63999
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63999
IgG4-related mediastinitis
Clinical subtype
64744
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64744
IgG4-related thyroid disease
Clinical subtype
79078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79078
IgG4-related dacryoadenitis and sialadenitis
Clinical subtype
238593
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238593
IgG4-related mesenteritis
Clinical subtype
447764
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447764
IgG4-related sclerosing cholangitis
Clinical subtype
449395
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449395
IgG4-related kidney disease
Clinical subtype
449400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449400
IgG4-related aortitis
Clinical subtype
449427
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449427
IgG4-related pachymeningitis
Clinical subtype
449432
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449432
IgG4-related submandibular gland disease
Clinical subtype
449563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449563
IgG4-related ophthalmic disease
Clinical subtype
280302
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280302
Autoimmune pancreatitis type 1
Clinical subtype
300345
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300345
Autosomal systemic lupus erythematosus
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
289390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289390
Primary Sjögren syndrome
Disease
80
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=80
Antiphospholipid syndrome
Disease
3130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3130
Satoyoshi syndrome
Disease
820
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=820
Sneddon syndrome
Disease
838
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=838
Susac syndrome
Disease
464343
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464343
Catastrophic antiphospholipid syndrome
Disease
231111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231111
Drug-induced lupus erythematosus
Disease
157987
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157987
Non-Langerhans cell histiocytosis
Clinical group
158029
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158029
Sea-blue histiocytosis
Disease
158014
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158014
Rosaï-Dorfman disease
Disease
157991
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157991
Generalized eruptive histiocytosis
Disease
158025
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158025
Hereditary progressive mucinous histiocytosis
Disease
35687
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35687
Erdheim-Chester disease
Disease
139436
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139436
Multicentric reticulohistiocytosis
Disease
158008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158008
Papular xanthoma
Disease
158011
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158011
Necrobiotic xanthogranuloma
Disease
158003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158003
Xanthoma disseminatum
Disease
158019
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158019
Indeterminate cell histiocytosis
Disease
158022
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158022
Progressive nodular histiocytosis
Disease
157997
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157997
Benign cephalic histiocytosis
Disease
158000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158000
Juvenile xanthogranuloma
Disease
251332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251332
Unexplained long-lasting fever/inflammatory syndrome
Disease
280062
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280062
Calciphylaxis
Disease
280065
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280065
Calciphylaxis cutis
Clinical subtype
280068
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280068
Visceral calciphylaxis
Clinical subtype
284227
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284227
TEMPI syndrome
Clinical syndrome
284993
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284993
Marfan syndrome and Marfan-related disorders
Category
622925
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622925
X-linked severe syndromic thoracic aortic aneurysm and dissection
Malformation syndrome
558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558
Marfan syndrome
Disease
284963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963
Marfan syndrome type 1
Clinical subtype
284973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973
Marfan syndrome type 2
Clinical subtype
1885
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1885
Isolated ectopia lentis
Malformation syndrome
115
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=115
Congenital contractural arachnodactyly
Malformation syndrome
2462
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2462
Shprintzen-Goldberg syndrome
Malformation syndrome
60030
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60030
Loeys-Dietz syndrome
Malformation syndrome
91387
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91387
Familial thoracic aortic aneurysm and aortic dissection
Disease
284979
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284979
Neonatal Marfan syndrome
Disease
284984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284984
Aneurysm-osteoarthritis syndrome
Disease
171719
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171719
Cutis laxa-Marfanoid syndrome
Malformation syndrome
300284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300284
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Disease
300382
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300382
Progeroid and marfanoid aspect-lipodystrophy syndrome
Disease
457077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457077
TAFRO syndrome
Disease
279947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279947
Postorgasmic illness syndrome
Clinical syndrome
542323
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542323
CAR T cell therapy-associated cytokine release syndrome
Particular clinical situation in a disease or syndrome
679
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=679
Malignant atrophic papulosis
Clinical subtype
2295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2295
Familial articular hypermobility syndrome
Disease
598363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598363
Multisystem inflammatory syndrome in children and adults
Disease
182231
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182231
Rare rheumatologic disease
Category
85193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85193
Idiopathic juvenile osteoporosis
Malformation syndrome
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
1416
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1416
Familial calcium pyrophosphate deposition
Disease
2848
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2848
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Disease
829
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=829
Adult-onset Still disease
Disease
29207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29207
Reactive arthritis
Disease
47612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47612
Felty syndrome
Disease
66627
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66627
Tenosynovial giant cell tumor
Disease
79099
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79099
Interstitial granulomatous dermatitis with arthritis
Disease
93569
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93569
Polymyalgia rheumatica
Disease
93665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93665
Autoinflammatory syndrome
Category
101995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101995
Periodic fever syndrome
Category
102237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102237
Unexplained periodic fever syndrome
Category
37748
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37748
Schnitzler syndrome
Malformation syndrome
42642
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42642
PFAPA syndrome
Disease
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
324927
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324927
Pyogenic autoinflammatory syndrome
Category
653434
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653434
Autoinflammatory syndrome with acne and/or hidradenitis suppurativa
Clinical group
641380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641380
PAPASH syndrome
Disease
69126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69126
PAPA syndrome
Disease
289478
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289478
PASH syndrome
Disease
641385
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641385
PASS syndrome
Disease
641390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641390
PsAPASH syndrome
Disease
793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=793
SAPHO syndrome
Disease
48104
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48104
Pyoderma gangrenosum
Disease
538863
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538863
Classic pyoderma gangrenosum
Clinical subtype
538866
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538866
Pustular pyoderma gangrenosum
Clinical subtype
538869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538869
Bullous pyoderma gangrenosum
Clinical subtype
538872
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538872
Vegetative pyoderma gangrenosum
Clinical subtype
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
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
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 inflammatory skin and bowel disease
Disease
3243
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3243
Sweet syndrome
Disease
324930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324930
Granulomatous autoinflammatory syndrome
Category
797
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797
Sarcoidosis
Disease
35687
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35687
Erdheim-Chester disease
Disease
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
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
324936
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324936
Unclassified autoinflammatory syndrome
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
324972
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324972
MAGIC syndrome
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
619363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619363
Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18
Disease
596753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596753
VEXAS syndrome
Disease
477647
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477647
Type 1 interferonopathy
Category
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
Syndromic diarrhea
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
247691
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247691
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
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
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
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
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
399158
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399158
Osteonecrosis
Category
566943
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566943
Mueller-Weiss syndrome
Disease
399329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399329
Epiphysiolysis of the hip
Disease
444316
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444316
Idiopathic phalangeal acro-osteolysis
Disease
2764
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2764
Osteochondritis dissecans
Disease
251262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251262
Familial osteochondritis dissecans
Disease
399164
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399164
Avascular necrosis
Category
399169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399169
Secondary avascular necrosis
Category
399175
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399175
Traumatic avascular necrosis
Disease
399180
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399180
Secondary non-traumatic avascular necrosis
Disease
399185
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399185
Rare hereditary disease with avascular necrosis
Category
232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232
Sickle cell anemia
Disease
77259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259
Gaucher disease type 1
Clinical subtype
77261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261
Gaucher disease type 3
Clinical subtype
217454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217454
Rare hereditary thrombophilia
Clinical group
743
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=743
Severe hereditary thrombophilia due to congenital protein S deficiency
Disease
745
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=745
Severe hereditary thrombophilia due to congenital protein C deficiency
Disease
82
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=82
Hereditary thrombophilia due to congenital antithrombin deficiency
Disease
217467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217467
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Disease
399293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399293
Osteonecrosis of the jaw
Disease
399302
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399302
Primary avascular necrosis
Clinical group
86820
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86820
Familial avascular necrosis of femoral head
Disease
399307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399307
Idiopathic avascular necrosis
Disease
399319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399319
Osteochondrosis
Category
564003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564003
Osteochondrosis of the metatarsal bone
Disease
2380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2380
Legg-Calvé-Perthes disease
Disease
3314
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3314
Thiemann disease, familial form
Disease
97332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97332
Kienbock disease
Disease
97335
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97335
Osgood-Schlatter disease
Disease
97336
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97336
Panner disease
Disease
97337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97337
Sinding-Larsen-Johansson disease
Disease
57196
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57196
Medial condensing osteitis of the clavicle
Disease
563991
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563991
Osteochondrosis of the tarsal bone
Disease
521127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521127
Osteoradionecrosis of the mandible
Disease
477650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477650
Fibroblastic rheumatism
Disease
178311
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178311
Isolated sternocostoclavicular hyperostosis
Disease
658951
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658951
Early-onset immune dysregulation due to DOCK11 complete deficiency
Disease
529977
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529977
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
Disease
658584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658584
Rowell syndrome
Disease
238569
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238569
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
Disease
73
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73
Gorham-Stout disease
Malformation syndrome
955
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=955
Hajdu-Cheney syndrome
Malformation syndrome