Input patient's phenotype(s)

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


PubCaseFinder is a diagnosis assistant system for rare diseases based on phenotypic similarity.


PubCaseFinder utilizes disease-phenotype associations extracted from over one million case reports.


PubCaseFinder helps you find case reports which are similar to your input phenotypes.


Phenotype-associations for 4,066 rare diseases are HERE.


1M+ Case Reports
>> PubMed
1 Rare Diseases
>> List
1 Disease-Phenotype Associations
>> List
1 Disease-Gene Associations
>> List

Original Data Sources

  1. Orphadata: Free access data from Orphanet. © INSERM 1997. Available on 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