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. 2023 Nov 11;52(D1):D1333–D1346. doi: 10.1093/nar/gkad1005

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© The Author(s) 2023. Published by Oxford University Press on behalf of Nucleic Acids Research.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Figure 2. — The Phenotypic Feature element of the GA4GH Phenopacket Schema. This element contextualizes HPO annotations by allowing the severity, onset, resolution, and other characteristics (modifiers) of the phenotypic observation to be specified. In this example, two phenotypic observations are given: (i) severe, daily (quotidian) infantile spasms with infantile onset (between month two and twelve of life) and resolution at the age of 4 years, 2 months and (ii) exclusion of global developmental delay (that is, this feature was assessed and explicitly found not to be present).