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[GRHL3-related orofacial clefting/GRHL3] #8457

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eedoh01 opened this issue Nov 27, 2024 · 0 comments
Open

[GRHL3-related orofacial clefting/GRHL3] #8457

eedoh01 opened this issue Nov 27, 2024 · 0 comments
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New term request user request A request from an external user

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@eedoh01
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eedoh01 commented Nov 27, 2024

Preferred gene-related syndrome label

GRHL3-related orofacial clefting

Synonyms

Parent term (use OLS, or your favorite ontology browser)

MONDO:0000358

Definition
Any orofacial clefting in which the cause of the disease is a mutation in the GRHL3 gene.

**Definition source (Please give PubMed ID, if applicable, in format PMID:#######)
PMID: 36901693, 34459660, 28886269, 27018475, 24360809

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://clinicalgenome.org/affiliation/40059/
@sagehrke sagehrke added the user request A request from an external user label Nov 29, 2024
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@sagehrke @eedoh01