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erythrokeratoderma variabilis (et) progressivaMONDO:0017681 or MONDO:0017851 [Merge] #6534

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kanems opened this issue Aug 3, 2023 · 3 comments · Fixed by #7294
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erythrokeratoderma variabilis (et) progressivaMONDO:0017681 or MONDO:0017851 [Merge] #6534

kanems opened this issue Aug 3, 2023 · 3 comments · Fixed by #7294
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@nicolevasilevsky
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merge on list Added to the obosletion or merge candidate list.
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February 2024

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@kanems
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kanems commented Aug 3, 2023

Mondo term (ID and Label)
erythrokeratoderma variabilis progressiva MONDO:0017681

Reason for deprecation
I am struggling to understand how this is clinically distinct from MONDO:0017851 erythrokeratodermia variabilis which includes the same abbreviation "EKVP" as the other record.
The OrphaNet term https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=308166 describes at least some of the same causative genes as outlined on the OMIM PS https://www.omim.org/phenotypicSeries/PS133200 the 'expert' summary in Ordo shows it hasn't been updated since 2015, so it's possible that they are the same concept?

Term to be merged with
MONDO:0017851 erythrokeratodermia variabilis
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@kanems kanems added the merge label Aug 3, 2023
@nicolevasilevsky
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@kanems thanks for the ticket! We'll look into this asap.

@nicolevasilevsky nicolevasilevsky added the on list Added to the obosletion or merge candidate list. label Aug 22, 2023
@nicolevasilevsky nicolevasilevsky added this to the November release milestone Aug 22, 2023
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@sabrinatoro I added this to the list but this will need further review before merging.

@sagehrke sagehrke moved this to Backlog in 2024-02 Mondo Release Jan 4, 2024
@sabrinatoro sabrinatoro moved this from Backlog to Up Next in 2024-02 Mondo Release Jan 30, 2024
@sabrinatoro sabrinatoro moved this from Up Next to In progress in 2024-02 Mondo Release Jan 30, 2024
@sabrinatoro sabrinatoro moved this from In progress to Up Next in 2024-02 Mondo Release Jan 30, 2024
@nicolevasilevsky
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I agree that these seem like the same disease. I'll proceed with the merge and assign @sabrinatoro to review.

@nicolevasilevsky nicolevasilevsky moved this from Backlog to In progress in 2024-03 Mondo Release Feb 16, 2024
nicolevasilevsky added a commit that referenced this issue Feb 16, 2024
@nicolevasilevsky
merge erythrokeratoderma variabilis progressiva
1738c1d 
close #6534
@nicolevasilevsky nicolevasilevsky mentioned this issue Feb 16, 2024
Merged
sabrinatoro pushed a commit that referenced this issue Feb 16, 2024
@nicolevasilevsky
merge erythrokeratoderma variabilis progressiva (#7294)
026d232 
* merge erythrokeratoderma variabilis progressiva

close #6534

* fix obs reason

* revise syns
@github-project-automation github-project-automation bot moved this from In progress to Done in 2024-03 Mondo Release Feb 16, 2024
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merge on list Added to the obosletion or merge candidate list.
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2024-03 Mondo Release
Status: Done
Milestone
February 2024
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merge erythrokeratoderma variabilis progressiva monarch-initiative/mondo
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@nicolevasilevsky @sabrinatoro @kanems