The Path to and Impact of Disease Recognition with AI

The process of rare disease identification by clinical geneticists is closely associated with the ability to correlate the phenotype of a patient with the relevant genetic syndromes. In order to perform this correlation, the phenotype has to be described in a canonical form or language. One such language is the human phenotype ontology, which defines the human phenotypes in a hierarchical form and facilitates the association between specific phenotypes and diseases. With such a structure, clinicians are able to evaluate the specific phenotypic features during the clinical evaluation process and then correlate those phenotypes to relevant diseases.