NTR: Polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE syndrome)

[srengel]

Include:

• new disease terms or updates to DO's disease terms

NTR: Polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE syndrome)

• It is helpful to include a definition and PubMed reference for new terms

Loss of function of the STRADA gene, an upstream mTOR inhibitor, causes a rare neurodevelopmental disorder characterized by polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE syndrome). Patients display a homogeneous phenotype including early-onset drug-resistant epilepsy, severe psychomotor delay, multisystemic comorbidities, and increased risk of premature death.

PMID:37722301

• It is useful to share information on the relevant project

SGD is using DO to annotate yeast genes used to study human diseases.

• include contact information along with your ORCID id, so that we can provide attribution for your contribution

Stacia Engel 0000-0001-5472-917X Saccharomyces Genome Database www.yeastgenome.org

[allenbaron]

Hi Stacia, thanks for the request. We'll review this and get it added as part of the October release.

A few possible mappings:

• OMIM:611087
• ORDO:500533
• GARD:12913

[allenbaron]

This disease will be included in the December release as DOID:0070511. My sincerest apologies for the delay.