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MONDO:0005486, tooth agenesis [Revise text def] #8565

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kanems opened this issue Jan 13, 2025 · 0 comments
Open

MONDO:0005486, tooth agenesis [Revise text def] #8565

kanems opened this issue Jan 13, 2025 · 0 comments

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@kanems
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kanems commented Jan 13, 2025

Mondo term (ID and Label)
MONDO:0005486, tooth agenesis

Suggested revision of textual definition. Please include a source, like a PubMed ID (in the format PMID:#######)
The definition and terms in Mondo conflict with HPO.
Can tooth agenesis in Mondo be updated to mirror HPO's terms and hierarchy?
HPO has Tooth agenesis HP:0009804 "The absence of one or more teeth from the normal series by a failure to develop" (which makes sense as the broadest concept for teeth missing due to failure of development)
and then Oligodontia (HP:0000677, 6+ absent teeth) and Hypodontia (HP:0000668, 1-5 absent teeth) are children/narrower concepts that are likely not needed in Mondo's data structure.
The Orphanet definition currently used on the Mondo record for "tooth agenesis" is actually for "oligodontia" and matches the HPO definition for the same preferred name.

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