[Artificial intelligence in the diagnosis of rare disorders: the development of phenotype analysis].

Abstract excerpt

Rare diseases can often be diagnosed by carefully assessing the phenotype of the patient, as characteristic deviations (dysmorphisms) occur in many genetic diseases. These affect, for example, the features of the face - the "facial gestalt."This paper highlights an area of artificial intelligence (AI) in which there has been great progress in recent years: the recognition of characteristic patterns in medical...

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