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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