ex) Telangiectasia, Intellectual disability, Seizures, Chorea, Headache

PubCaseFinder is a diagnosis support system for rare diseases.


1 Rare Diseases
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1 Disease-Phenotype Associations
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1 Disease-Gene Associations
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1M+ Case Reports
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Original Data Sources

  1. Orphadata: Free access data from Orphanet. © INSERM 1997. Available on http://www.orphadata.org. Data version (XML data version).

  2. Sebastian Köhler, Sandra C Doelken, Christopher J. Mungall, Sebastian Bauer, Helen V. Firth, et al. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data Nucl. Acids Res. (1 January 2014) 42 (D1): D966-D974 doi:10.1093/nar/gkt1026

  3. Mungall, Christopher J., et al. The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species. Nucleic acids research 45.D1 (2016): D712-D722.

  4. Wei CH et. al., PubTator: a Web-based text mining tool for assisting Biocuration, Nucleic acids research, 2013, 41 (W1): W518-W522. doi: 10.1093/nar/gkt44

  5. HPO-Japanese alpha version

  6. jQuery Tokeninput: Copyright (c) James Smith, Released under the MIT license, https://opensource.org/licenses/mit-license.php

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  8. BodyParts3D, Copyright Database Center for Life Science licensed by CC BY SA 2.1-ja