Creative Commons Attribution 4.0 International CC-BY-4.0 https://creativecommons.org/licenses/by/4.0/legalcode 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 Deficiency of adenosine deaminase 2 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 amyloid angiopathy 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 Disease 85447 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85447 ATTRV30M amyloidosis Clinical subtype 85451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85451 ATTRV122I amyloidosis Clinical subtype 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 687733 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687733 Pulmonary Langerhans cell histiocytosis Clinical subtype 687741 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687741 Multisystem Langerhans cell histiocytosis Clinical subtype 687738 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687738 Single-system multifocal Langerhans cell histiocytosis Clinical subtype 687730 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687730 Unifocal Langerhans cell histiocytosis Clinical subtype 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 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 698914 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698914 Platelet-activating anti-platelet factor 4 disorder Clinical group 3325 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3325 Classic heparin-induced thrombocytopenia Disease 698945 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698945 Autoimmune heparin-induced thrombocytopenia Disease 699021 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699021 Spontaneous heparin-induced thrombocytopenia Disease 699029 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699029 Vaccine-induced immune thrombotic thrombocytopenia 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 due to TPP2 deficiency Disease 289390 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289390 Primary Sjögren disease 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 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 697101 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697101 Fontaine progeroid syndrome Disease 2095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2095 Gorlin-Chaudhry-Moss syndrome Clinical subtype 2963 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2963 Progeroid syndrome, Petty type Clinical subtype 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 79099 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79099 Interstitial granulomatous dermatitis with arthritis 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 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 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 54251 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54251 Aseptic abscess 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 erythroderma-autoinflammation-inflammatory bowel disease syndrome 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 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 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 184 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=184 Cherubism Malformation syndrome 674762 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency Disease 676125 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676125 X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency Disease 619363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619363 NOCARH syndrome Disease 596753 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596753 VEXAS syndrome Disease 596759 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596759 Combined immunodeficiency due to RELA haploinsufficiency 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 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 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 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 699605 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699605 NEMO deleted exon 5 autoinflammatory syndrome 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 662255 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662255 Grisel syndrome Clinical syndrome 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