sagehrke
commented
3 months ago Dear @kanems, Thank you for reaching out to the Mondo Disease Ontology, part of the Monarch Initiative!
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Mondo term (ID and Label) MONDO:0035383 FOXG1 syndrome
Reason for deprecation GeneReviews uses FOXG1 syndrome as their preferred name for this chapter: https://www.ncbi.nlm.nih.gov/books/NBK604176/ that points to OMIM 613454 RETT SYNDROME, CONGENITAL VARIANT (See Table B for OMIM entries)
But I see there is also FOXG1 disorder (MONDO:0100040) that is parent to Rhett syndrome, congenital variant (MONDO:0013270), so I don't know if that is a conceptual match to FOXG1 syndrome?
If UMLS is correct, then Orphanet 561854 and OMIM 613454 are the same concept on CUI C3150705.
Term to be merged with ??? Not sure, but I would seem that there it at least one too many Mondo concepts here among this trio of entries. Or maybe it's not a merge but a restructuring of FOXG1 syndrome under the Disorder term?
Your nano-attribution (ORCID) If you don't have an ORCID, you can sign up for one here