En la actualidad el uso de herramientas informatizadas para la búsqueda de información hace necesario utilizar nomenclatura estandarizada y codificada para referirse a los signos dismórficos que forman parte del fenotipo clínico. Se ha realizado un esfuerzo importante para sistematizar esta nomenclatura, añadiendo un código HPO que puede buscarse en la página web de Human Phenotype Ontology. Es necesario conocer esta terminología a la hora de realizar correlaciones fenotipo-genotipo, ya que habitualmente, los informes de resultados genéticos seleccionarán la relevancia de las variantes identificadas utilizando códigos HPO.
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