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Disease Models

The genotype-phenotype associations made by the IMPC are used to identify models for human diseases based on phenotypic similarity scores. The similarity of the mouse model to human genetic diseases are shown by gene orthology and phenotypic profiles with Phenodigm scores (Smedley et al. 2013). A similarity score is computed based on the 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 (HP terms; Köhler et al. 2017).

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