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MONDO:0007727 autosomal dominant familial periodic fever to TNF receptor 1-associated periodic syndrome (TRAPS #7707

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nataliedeuitch opened this issue May 13, 2024 · 1 comment
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relabel term user request A request from an external user

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@nataliedeuitch
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Mondo term (ID and Label):
MONDO:0007727 autosomal dominant familial periodic fever

Suggested new label:
TNF receptor 1-associated periodic syndrome (TRAPS)

Your nano-attribution (ORCID)
(https://orcid.org/0000-0002-0146-1162) https://clinicalgenome.org/affiliation/40139/

Optional: Any additional information (like supporting evidence, PubMed ID, etc.)
We're just curating this gene as a part of the autoinflammatory GCEP and would like to make sure that the main curation is for TNF receptor 1-associated periodic syndrome (TRAPS) as this is what the disease is called. There are many autosomal dominant familial periodic fevers so it's a bit confusing as labeled and not specific to mutation sin the TNFRSF1A gene.

@sagehrke
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Dear @nataliedeuitch,
Thank you for reaching out to the Mondo Disease Ontology, part of the Monarch Initiative!

We have received your ticket and will review it as soon as possible.

If you have any additional information or updates relevant to your inquiry, please add them in a comment on this ticket. Your input is valuable in helping us understand and resolve the issue effectively.

Thank you for your patience and for your contributions to Mondo!

Sincerely,
The Mondo Team

@sagehrke sagehrke added the user request A request from an external user label May 15, 2024
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