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MONDO:0800199 Angelman syndrome chromosome region[Obsolete] #7067

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kanems opened this issue Dec 20, 2023 · 1 comment · Fixed by #7455
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MONDO:0800199 Angelman syndrome chromosome region[Obsolete] #7067

kanems opened this issue Dec 20, 2023 · 1 comment · Fixed by #7455
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obsolete This includes both obsolete and merge requests on list Added to the obosletion or merge candidate list.

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@kanems
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kanems commented Dec 20, 2023

Mondo term (ID and Label)
MONDO:0800199 Angelman syndrome chromosome region

Reason for deprecation
I think that this is referring to the locus rather than a clinical phenotype. https://www.omim.org/entry/105830
"Approximately 70% of AS cases result from de novo maternal deletions involving chromosome 15q11.2-q13; approximately 2% result from paternal uniparental disomy of 15q11.2-q13; and 2 to 3% result from imprinting defects. A subset of the remaining 25% are caused by mutations in the gene encoding the ubiquitin-protein ligase E3A gene (UBE3A; 601623) (Kishino et al., 1997)."
@ahamosh Am I reading into this correctly? While the Gene-Phenotype table on the OMIM page shows UBE3 as the associated gene; the locus 15q11.2-q13 is the "Angelman syndrome chromosome region" ?

Suggested term to consider
MONDO:0007113 (Angelman syndrome)

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@kanems kanems added the obsolete This includes both obsolete and merge requests label Dec 20, 2023
@sabrinatoro sabrinatoro added the on list Added to the obosletion or merge candidate list. label Jan 12, 2024
@sagehrke sagehrke moved this to Backlog in 2024-04 Mondo Release Mar 4, 2024
@nicolevasilevsky nicolevasilevsky moved this from Backlog to Up Next in 2024-04 Mondo Release Mar 12, 2024
@nicolevasilevsky
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I agree that this is a chromosome region and not a disease and should be obsoleted

@nicolevasilevsky nicolevasilevsky moved this from Up Next to Under review in 2024-04 Mondo Release Mar 21, 2024
sabrinatoro pushed a commit that referenced this issue Mar 21, 2024
* obsolete Angelman syndrome chromosome region

close #7067

* fix qc and make norm

* fix qc
@github-project-automation github-project-automation bot moved this from Under review to Done in 2024-04 Mondo Release Mar 21, 2024
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Labels
obsolete This includes both obsolete and merge requests on list Added to the obosletion or merge candidate list.
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