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[NTR/gene] PIK3CA #7718
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Dear @abbe-Lai, 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, |
Preferred gene-related syndrome label
PIK3CA-related Overgrowth spectrum
Synonyms
MONDO:0100283
Parent term (use OLS, or your favorite ontology browser)
MONDO:0019716
Definition
Please write the definition in the format: Any [parent class] in which the cause of the disease is a mutation in the [gene name] gene.
Any malformations/disorders resulting from pathogenic gain-of-function variants in the PIK3CA gene. The variants can be germline or somatic
**Definition source (Please give PubMed ID, if applicable, in format PMID:#######)
PMID: 25557259; 23592320; 23946963
Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term?
MONDO:0014047
MONDO:0017812
MONDO:0013038
MONDO:0011240
MONDO:0019375
Your nano-attribution (ORCID) or URL for a working group
If you don't have an ORCID, you can sign up for one here
https://clinicalgenome.org/affiliation/50020/
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