Welcome to GDDP, computational Genetic Disease Diagnosis based on Phenotypes.
It's very easy to query for OMIM diseases based on phenotypes using this application:
Statistics of current disease knowledge base:
April 10, 2019 Annotation updated: Number of OMIM diseases: 7196. Number of HPO Phenotypic Abnormality terms: 7816.
August 2, 2018 Application migration and deployment to dedicated VM server.
June 12, 2018 Paper published online.
Februray 28, 2018 Web application v1.0 finished.
September 5, 2017 Web application v0.0 finished.
Janunary 23,2017 Annotation updated: Number of OMIM diseases: 7036. Number of HPO Phenotypic Abnormality terms: 7934.
Method 1: integrated semantic similarity
Method 2: weighted overlapping