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Improve handling of curly bracket entries from OMIM #10910

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jxchong opened this issue Dec 2, 2024 · 0 comments
Open

Improve handling of curly bracket entries from OMIM #10910

jxchong opened this issue Dec 2, 2024 · 0 comments
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@jxchong
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jxchong commented Dec 2, 2024

Disease ID and Name
Example https://omim.org/entry/260500 {Choroid plexus papilloma}

Further information (Frequency, Onset, Pubmed-references, Comments)
Per OMIM, braces, "{ }", indicate mutations that contribute to susceptibility to multifactorial disorders (e.g., diabetes, asthma) or to susceptibility to infection (e.g., malaria).

Right now this HPO entry (and I suspect many other disease entities in HPO for other {} diseases) do not have this multifactorial relationship documented. I suggest adding Non-Mendelian inheritance HP:0001426 or and/or more specifically, Polygenic inheritance HP:0010982 to all of these entries to reflect the fact that they are not Mendelian diseases.

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