Welcome to PhenoDigm (PHENOtype comparisons for DIsease and Gene Models)

Model organisms represent a valuable resource for the characterisation as well as identification of disease-gene associations, especially where the molecular basis is unknown and there is no clue to the candidate gene’s function, pathway involvement or expression pattern. To systematically apply this methodology, PhenoDigm uses a semantic approach to map between clinical features observed in humans and mouse and zebrafish phenotype annotations. The database allows browsing/searching of genetic diseases from the Online Mendelian Inheritance in Man (OMIM) database and display of the resulting animal model matches ranked by their phenotypic similarity to the disorder. To date, phenotyped mutants from the Mouse Genome Informatics Database (MGD), the Sanger Mouse Genetics Project (MGP) and the Zebrafish Model Organism Database (ZFIN) are incorporated. Future builds will incorporate data from projects performing high throughput phenotyping of every protein-coding gene: the International Mouse Phenotyping Consortium (IMPC) and Zebrafish Mutation Project (ZMP).

Browse diseases and their prioritised models here.