sagehrke
commented
6 days ago Dear @stromulus, Thank you for reaching out to the Mondo Disease Ontology, part of the Monarch Initiative!
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Hi! I am the chair of the ClinGen variant curation expert panel for GBA1-related Parkinson disease. We have already completed GCEP work and confirmed this to be a Definitive association. As far as I can tell, there is no current gene-related syndrome term in the ontology for this. I have not made a request to MONDO previously, so I appreciate your assistance on this matter. Please let me know if there is any other information you need.
Preferred gene-related syndrome label
GBA1-related Parkinson disease
Synonyms
GBA-related Parkinson's Disease
Parent term (use OLS, or your favorite ontology browser) Parkinson disease MONDO:0005180
Definition Any increased susceptibility for developing Parkinson disease due to the presence of a monoallelic pathogenic variant, likely pathogenic variant, or risk allele in the GBA1 gene.
**Definition source (Please give PubMed ID, if applicable, in format PMID:#######)
https://search.clinicalgenome.org/CCID:004931 PMID: 19858467 PMID: 19846850 PMID: 19433656
Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term? None
Your nano-attribution (ORCID) or URL for a working group If you don't have an ORCID, you can sign up for one here
0000-0003-3254-7564