galyea123
commented
2 months ago Just adding to my comment: Please note that the MONDO list of the broad term links to Orphanet:35056 This should be linked only to the severe primary trimethylaminuria MONDO:0018767. Also you may want to correct the synonyms.
Of note: The prevalence of the parent term is unknown but I believe should still be rare. There are other forms like the transient form. Thanks, Gioconda Alyea
Hi! I was not sure if this is the right place for this issue but I wanted to let you know that you list trimethylaminuria (broad term) MONDO:0011182 with the following description: "A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals." This is actually the definition for what you list as "primary trimethylaminuria" MONDO:0018767.
I suggest reviewing this definition for the broad (parent) term stating that trimethylaminuria can be primary (which is a rare inborn error of metabolism) or acquired. Please see the NORD report: https://rarediseases.org/rare-diseases/trimethylaminuria/
Thank you! Gioconda Alyea