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Table 3 Publication summary

From: Diagnosis support systems for rare diseases: a scoping review

Material

Knowledge

Machine learning

Articles

Phenotype concepts (22 studies)

Knowledge-based (14 studies)

No

[2, 54, 55, 61, 63,64,65,66,67,68,69,70,71, 77]

Hybrid (7 studies)

Yes

[27, 73,74,75,76, 78]

No

[25]

Data driven (1 study)

Yes

[72]

Fluids (12 studies)

Hybrid (2 studies)

Yes

[28, 29]

Data driven (10 studies)

Yes

[20, 23, 24, 31, 36, 42, 47, 48, 56, 60]

Images (16 studies)

Hybrid (2 studies)

Yes

[41, 45]

Data driven (14 studies)

Yes

[19, 21, 22, 30, 33,34,35, 43, 44, 49, 51, 57, 59, 62]

Questionnaires (3 studies)

Data driven (3 studies)

Yes

[52, 53, 58]

Family history and combined material (8 studies)

Knowledge-based (5 studies)

No

[26, 32, 38, 46, 50]

Hybrid (2 studies)

Yes

[37, 39]

Data driven (1 study)

Yes

[40]

  1. References are listed in column “articles” according to the type of material considered and the model used (presence/absence of prior knowledge and of machine learning). The number of studies according to material and knowledge is given in parentheses