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ex) Micrognathia, Hypoplasia of the ulna, Short finger, Cleft upper lip, Cleft eyelid

PubCaseFinder is useful for differential diagnosis and genetic testing.

Rare and Genetic Disease Search System




Differential Diagnosis

A ranked list of diseases is produced to be used by physicians as a part of the diagnostic workup.


N of 1 Problem

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 13,000 HPO terms are available.


Multilingualization

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



Rare and Genetic Disease Search System Used For

Medical Professionals



Statistics

1
Genetic Diseases
1
Rare Diseases
1
Genes
1
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.
[PubMed Entry]   [Full Text]





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