New disease Term overgrowth syndrome w/or without cerebral malformations[NTR]

[abbe-Lai]

Preferred term label: Overgrowth syndrome w/or without cerebral malformations

Synonyms

Definition (free text, please give PubMed ID, if applicable, in format PMID:#######) This disorder term will be used for several genes within the MTOR pathway (MTOR, PIK3CA, PIK3R2, AKT3). These genes result in very similar overlapping phenotypes which are often indistinguishable. Depending on where the somatic mutation occurs it can result in overgrowth in the brain or of a single limb or multiple limbs. Many of the diseases listed in OMIM under these genes are actually a spectrum of mosaicism. (PMID: 30197175, 28969385).

*Parent term (use OLS, or your favorite ontology browser) Congenital Abnormality Developmental abnormality during embryogenesis overgrowth/obesity syndrome Children terms (if applicable) Should any existing terms that should be moved underneath this new proposed term?

Your nano-attribution (ORCID) Brain Malformation Curation Expert Panel

[nicolevasilevsky]

@abbe-Lai

Many of the diseases listed in OMIM under these genes are actually a spectrum of mosaicism.

Should any of these OMIM terms be a child of this term?

[nicolevasilevsky]

Hi @abbe-Lai pinging you again - see question above. Thanks!

[nicolevasilevsky]

@abbe-Lai Is this proposed label and def okay:

label: 'overgrowth syndrome with or without cerebral malformations due to defects in MTOR pathway'

def: An overgrowth syndrome caused by variations in genes within the MTOR pathway (MTOR, PIK3CA, PIK3R2, AKT3), which can either result in overgrowth in the brain or of a single limb or multiple limbs.

[nicolevasilevsky]

@abbe-Lai following up, please let me know if the proposed label and definition above look okay, whenever you have a chance. Thanks!

[abbe-Lai]

Hello,

We have come up with a new idea! Should I submit it in a new github ticket? The majority of our panel members have decided that a single term would be sufficient.

Best, Abbe Lai

From: Nicole Vasilevsky notifications@github.com Reply-To: monarch-initiative/mondo reply@reply.github.com Date: Monday, November 16, 2020 at 8:45 PM To: monarch-initiative/mondo mondo@noreply.github.com Cc: "Lai, Abbe" Abbe.Lai@childrens.harvard.edu, Mention mention@noreply.github.com Subject: Re: [monarch-initiative/mondo] New disease Term overgrowth syndrome w/or without cerebral malformations[NTR] (#1830) [EXTERNAL]

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[nicolevasilevsky]

Great - a new ticket is great, I'll close this one, thanks!