sagehrke
commented
5 months ago 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
Preferred gene-related syndrome label PIK3R2-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 PIK3R2 gene. The variants can be germline or somatic
**Definition source (Please give PubMed ID, if applicable, in format PMID:#######) PMID: 27854409; 32856318; 22729224; 26860062
Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term?
MONDO:0011313
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/