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Frequency transformation

Sebastian Köhler edited this page Apr 24, 2017 · 1 revision

We use an HPO subontology to encode frequency information for phenotype annotations (i.e. how many patients with a particular disease do have a particular clinical feature).

Sometimes we used words like "rare" or "hallmark", sometimes we use numbers such as "73%" or "12/175". Here we desribe the process of mapping this to the Orphanet/HPO vocabulary of frequency-modifiers.