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update xref annotations for OMIM Phenotypic series #7922

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merged 5 commits into from
Jul 10, 2024
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@twhetzel twhetzel commented Jul 5, 2024

closes #7766

FYI - For PS151623 Li Fraumeni syndrome, while this is in the OMIM exclusion list the Mondo term also has the OMIMPS xref.

@twhetzel twhetzel requested a review from sabrinatoro as a code owner July 5, 2024 14:23
@twhetzel twhetzel changed the title update xref annotations update xref annotations for OMIM Phenotypic series Jul 5, 2024
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@twhetzel I have one comment about a x-ref that was updated to using OMIM instead of OMIMPS

@@ -388432,7 +388435,7 @@ synonym: "hypospadias-hypertelorism syndrome" EXACT [Orphanet:2745]
synonym: "Opitz BBBG syndrome" RELATED [GARD:0000193]
synonym: "Opitz G syndrome" EXACT [NCIT:C125487]
synonym: "Opitz G/BBB syndrome" EXACT [DOID:0050780]
synonym: "Opitz GBBB syndrome" EXACT [OMIMPS:300000]
synonym: "Opitz GBBB syndrome" EXACT [OMIM:300000]
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@twhetzel I don't understand why this x-ref was updated to OMIM:300000, since OMIM:300000 refers to another Mondo ID.
I think this OMIMPS x-ref should be kept or another x-ref should be used for this synonym (but not OMIM:300000), but I need to know more before saying that this is what should be done.

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https://omim.org/phenotypicSeries/PS300000 is no longer active. what xref for this synonym should be used now?

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the xref should be any source(s) that use this synonym. It could be DO, Orphanet,etc., a PMID, and/or your orcid.

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Ah, ok I think I understand now what you are asking so I've updated the synonym xref to sources that use that term.

@twhetzel twhetzel requested a review from sabrinatoro July 10, 2024 01:39
@twhetzel twhetzel assigned sabrinatoro and unassigned twhetzel Jul 10, 2024
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Looks good! Thank you!
Approving and merging.

@sabrinatoro sabrinatoro merged commit fee63fd into master Jul 10, 2024
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@sabrinatoro sabrinatoro deleted the issue-7766-1 branch July 10, 2024 05:40
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OMIM Phenotypic series updates
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