sagehrke
commented
3 days ago Dear @ValWood, Thank you for reaching out to the Mondo Disease Ontology, part of the Monarch Initiative!
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Preferred gene-related syndrome label
Polymerase proofreading-associated polyposis (and ideally separate terms for the
Synonyms
Parent term (use OLS, or your favorite ontology browser)
MONDO:0021057 classic or attenuated familial adenomatous polyposis (or a descendent)
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. For example: Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene.
A "classic or attenuated familial adenomatous polyposis" (I don't know which), caused by a defect in polymerase proofreading in which the cause of disease is a mutation in the POLE or POLD1 genes.
Polymerase proofreading-associated polyposis (PPAP) is an autosomal dominant hereditary cancer syndrome, which is characterized by numerous polyps in the colon and an increased risk of colorectal cancer.[1] It is caused by germline mutations in DNA polymerase ε (POLE) and δ (POLD1)
**Definition source (Please give PubMed ID, if applicable, in format PMID:#######)
https://en.wikipedia.org/wiki/Polymerase_proofreading-associated_polyposis
Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term?
Your nano-attribution (ORCID) or URL for a working group If you don't have an ORCID, you can sign up for one here