[NTR/gene] PIK3CA

[abbe-Lai]

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/

[sagehrke]

Dear @abbe-Lai,
Thank you for reaching out to the Mondo Disease Ontology, part of the Monarch Initiative!

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Sincerely,
The Mondo Team