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Table 2 Summary of confirmed diagnoses in included cases

From: Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study

Confirmed diagnosis No. of cases New disease model
Antiphospholipid syndrome (APS) 2  
Antisynthetase syndrome 5 yes
Behcet’s disease 5  
Chronic hepatitis C 1  
Chronic polyarthritis 2  
CREST syndrome 1  
Cryoglobulinemia 4  
Cryopyrin-associated periodic syndrome (CAPS) 3 yes
Eosinophilic granulomatosis with polyangiitis (EGPA) 2  
Fabry disease 2  
Familial Mediterranean fever (FMF) 4  
Felty syndrome 1  
Focal segmental glomerulosclerosis (FSGS) 1  
Giant cell arteritis 1  
Gout arthritis 2  
Granulomatosis with polyangiitis (GPA) 11  
Henoch-Schonlein purpura (HSP) 3  
Hypophosphatasia 2 yes
IgG4-related disease 4 yes
Kimura disease 1 yes
Mixed amyloidosis 1  
Mixed connective tissue disease (MCTD) 1  
Panarteritis nodosa 2  
Polymyositis/dermatomyositis 2  
Polymyositis/scleroderma overlap 1 yes
Primary sclerosing cholangitis 1  
Relapsing polychondritis 2  
Retroperitoneal fibrosis 1 yes
SAPHO syndrome 3 yes
Sarcoidosis 4  
Sjogren’s syndrome 4  
Small fiber neuropathy 1 yes
Spondyloarthritis 7  
Stickler syndrome 1 yes
Systemic lupus erythematosus (SLE) 5  
Systemic sclerosis 1  
Takayasu’s arteritis 4  
Thromboangiitis obliterans 1  
Thrombotic thrombocytopenic purpura (TTP) 1  
TNF receptor associated periodic syndrome (TRAPS) 1 yes
Tubulointerstitial nephritis and uveitis syndrome (TINU) 2 yes
Whipple disease 1  
Total 93 12
  1. Cases with multiple diagnoses appearing multiple times