Rare and Genetic Disease Search System

Finding Diseases

A ranked list of rare and genetic diseases is produced to be used by physicians.

Finding Open Cases

19,000 cases suspected rare or hereditary diseases published on the Internet are searchable.

Finding Case Reports

300,000 published case rerpots included in PubMed are searchable for each disease.

Easy Phenotyping

Useful search functions to select appropriate phenotypes from 15,000 HPO terms are available.

Input Free-Text

PubCaseFinder is linked with Doc2Hpo to automatically extract phenotypes from clinical text.

Multilingualization

Currently, it supports English and Japanese. More languages will be supported in the future.

Tailored for
Medical Professionals

Statistics

7000

Genetic Diseases

3000

Rare Diseases

3300

Genes

18000

Cases

Citation

When you use PubCaseFinder in your publications, please cite:

Toyofumi Fujiwara, Yasunori Yamamoto, Jin-Dong Kim, Orion Buske, and Toshihisa Takagi., PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases, The American Journal of Human Genetics 103.3 (2018): 389-399.

Special Thanks

Memberships & Collaborators