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Update clingen label #7926
Update clingen label #7926
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UPDATE: I talked with Sabrina and she explained the information in OMIM and why it is modeled with these terms in Mondo (summary: the OMIM entry page also has an Included entry). So the resolution is to not add the requested exact synonym to MONDO:0014805 and notify ClinGen about this. @sabrinatoro @nicolevasilevsky the QC is failing on Both Orphanet and Mondo have these terms:
However, they all point to the same OMIM term: https://omim.org/entry/616863. OMIM describes HAO-FOUNTAIN SYNDROME as having evidence that Hao-Fountain syndrome (HAFOUS) is caused by heterozygous mutation in the USP7 gene (602519) on chromosome 16p13.2 and that some patients with a similar phenotype have larger heterozygous deletions of chromosome 16p13.2, including the USP7 gene and additional neighboring genes. Should these three terms in Mondo be merged (MONDO:0014805, MONDO:0100528 and MONDO:0958071) or should only MONDO:0958071 contain the clingen label syonym type or another solution? |
Link to the google sheet: https://docs.google.com/spreadsheets/d/1lG1TVLhzSH2-EQ4bayMSlFNjaOiMzDCySbXlW51Fx6I/edit?usp=sharing |
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@twhetzel I have 2 very minor comments. I am approving this PR so it can be merged as soon as these minor comments are addressed.
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Everything looks good. Thank you!
closes #7924
In cases where the clingen preferred term did not already exist as a synonym in Mondo, I added a new exact synonym. All synonyms in the gSheet should be tagged with
CLINGEN_LABEL
and an xref for the Clingen group listed in the gSheet. See email "Mondo-ClinGen interaction" for link to this gSheet.