A ranked list of rare and genetic diseases is produced to be used by physicians.
19,000 cases suspected rare or hereditary diseases published on the Internet are searchable.
300,000 published case rerpots included in PubMed are searchable for each disease.
Useful search functions to select appropriate phenotypes from 13,000 HPO terms are available.
Currently, it supports English and Japanese. More languages will be supported in the future.
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]