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Orphanet 252202 #7068

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kanems opened this issue Dec 20, 2023 · 0 comments · Fixed by #7123
Closed

Orphanet 252202 #7068

kanems opened this issue Dec 20, 2023 · 0 comments · Fixed by #7123
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kanems commented Dec 20, 2023

Mondo term (ID and Label):
MONDO:0010159 mismatch repair cancer syndrome 1 (current x-ref location)
MONDO:0031219 mismatch repair cancer syndrome (proposed new x-ref location)

Xref that should be fixed (ID and label):
Orphanet:252202 (Constitutional mismatch repair deficiency syndromeORDO )
Move to the parent concept (MONDO:0031219)
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Other comments:
The Orphanet page shows that maps to the same 4 OMIM numbers as the OMIM phenotypic series.
@kanems kanems added the xref label Dec 20, 2023
@nicolevasilevsky nicolevasilevsky self-assigned this Jan 13, 2024
nicolevasilevsky added a commit that referenced this issue Jan 13, 2024
@nicolevasilevsky
revise xref for 'mismatch repair cancer syndrome 1'
5fb6790 
close #7068
@nicolevasilevsky nicolevasilevsky mentioned this issue Jan 13, 2024
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@nicolevasilevsky nicolevasilevsky moved this from Up Next to Under review in 2024-02 Mondo Release Jan 13, 2024
sabrinatoro pushed a commit that referenced this issue Jan 13, 2024
@nicolevasilevsky
revise xref for 'mismatch repair cancer syndrome 1' (#7123)
beb2783 
close #7068
@github-project-automation github-project-automation bot moved this from Under review to Done in 2024-02 Mondo Release Jan 13, 2024
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2024-02 Mondo Release
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revise xref for 'mismatch repair cancer syndrome 1' monarch-initiative/mondo
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@nicolevasilevsky @kanems