Table 5.
Characteristics of online tools
| Tool name | Date | Data sources | Performances: Top 10 ranking | Related articles | URL |
|---|---|---|---|---|---|
| Phenomizer | 2009 | Phenotype concepts | NA | [63] | http://compbio.charite.de/phenomizer |
| BOQA | 2012 | Phenotype concepts | NA | [64] | http://compbio.charite.de/boqa/ |
| Phenotips | 2013 | Phenotype concepts | NA | [65] | http://phenotips.org |
| FindZebra | 2013 | Phenotype concepts | 63% | [66] | http://www.findzebra.com/ |
| PhenIX | 2014 | Phenotype concepts/genes | ~ 99% | [67] | http://compbio.charite.de/PhenIX/ |
| Phenolyzer | 2015 | Phenotype concepts/genes | ~ 85% | [69] | http://phenolyzer.usc.edu |
| RDD | 2016, 2017 | Phenotype concepts | 38% | [2, 70] | http://diseasediscovery.udl.cat/ |
| IEMbase | 2018 | Phenotype concepts | 90% | [54] | http://www.iembase.org/app |
| PubCaseFinder | 2018 | Phenotype concepts | 57% | [71] | https://pubcasefinder.dbcls.jp/ |
| RDAD | 2018 | Phenotype concepts/genes | 95% | [73] | http://www.unimd.org/RDAD/ |
| GDDP | 2019 | Phenotype concepts | ~ 32% | [77] | https://gddp.research.cchmc.org/ |
| Xrare | 2019 | Phenotype concepts/genes | ~ 95% | [78] | https://web.stanford.edu/~xm24/Xrare/ |
| CC-Cruiser | 2017 | Images | NA | [44] | https://www.cc-cruiser.com/ |
| DeepGestalt | 2019 | Images | NA | [62] | https://www.face2gene.com/ |
For each online tool, we listed the publication year, the materials used, the performance indicated in each publication, and the URLs provided in the publications. For the performance, the proportion of accurate diagnoses within the top 10 most relevant disease for each patient is given for all algorithms based on diagnoses recommendation (i.e., providing for each patient a list of potential diagnoses ranked by relevance). These results were provided by the authors of each tool and thus do not allow a comparison of tool performance, as the nature and volume of each dataset were different