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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