Currently, the use of computerized tools for information retrieval makes it necessary to use standardized and coded nomenclature to refer to the dysmorphic signs that are part of the clinical phenotype. A major effort has been made to systematize this nomenclature, adding an HPO code that can be searched on the website of Human Phenotype Ontology. It is necessary to know this terminology when performing phenotype-genotype correlations, as genetic test reports will usually select the relevance of identified variants using HPO codes.
