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Add 'has material basis in germline mutation in' to porphyria related terms #8209

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twhetzel opened this issue Sep 26, 2024 · 1 comment
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twhetzel commented Sep 26, 2024

In review of porphyria terms for this ticket, some additional updates are needed:

@twhetzel twhetzel self-assigned this Sep 26, 2024
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twhetzel commented Nov 7, 2024

I reviewed the OMIM site today and it lists the disease to gene association as provisional based on the ? preceding the disease name, e.g. ?Protoporphyria, erythropoietic, 2, so this should not be added into Mondo.

@twhetzel twhetzel closed this as completed Nov 7, 2024
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