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Sharpin-related autoinflammatory syndrome #7706

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nataliedeuitch opened this issue May 13, 2024 · 1 comment
Open

Sharpin-related autoinflammatory syndrome #7706

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

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@nataliedeuitch
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Sharpin-related autoinflammatory syndrome
For example: NAA10-related syndrome

Sharpenia

autoinflammatory syndrome (use OLS, or your favorite ontology browser)

Definition
An auntoinflammatory disease in which the cause of the disease is a mutation in the Sharpin gene.

**Definition source (PMID: 38609546)

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term?

Your nano-attribution (ORCID) or URL for a working group
(https://orcid.org/0000-0002-0146-1162) https://clinicalgenome.org/affiliation/40139

@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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