Help & Documentation

Disease models

The genotype-phenotype associations made by the IMPC are used to identify models for human disease based on phenotypic similarity scores. In the Disease models section of the Gene page, a table showing the similarities between the knockout mice and human diseases is presented, and phenodigm scores (Smedley et al. 2013) are listed. They establish a link between IMPC mouse phenotypes mapped to the Mammalian Phenotype Ontology (MP terms) and the clinical descriptions of human diseases, as featured in OMIM, Orphanet and DECIPHER, described using the Human Phenotype Ontology (Köhler et al. 2017; HP terms).

More on disease models

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter