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:
Please enter phenotype
Please enter phenotype
May 11, 2023 Web service API completed.
May 5, 2023 Annotation updated: Number of OMIM diseases: 8232. Number of HPO Phenotypic Abnormality terms: 10247.
February 1, 2021 Annotation updated: Number of OMIM diseases: 7871. Number of HPO Phenotypic Abnormality terms: 8038.
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.
February 28, 2018 Web application v1.0 completed.
September 5, 2017 Web application v0.0 completed.
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
Base URL
Endpoints
text2hpo: Map phenotype description in free text (input: text [string]) to HPO terms.
hpo2omim: Rank OMIM diseases based on a list of HPO IDs (input: hpo [string]) using GDDP Method 2.
hpo2gene: Rank OMIM genes based on a list of HPO IDs (input: hpo [string]) using GDDP Method 2.