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[Merge] MONDO:0859001 & MONDO:0859150 BDV Syndrome #8480

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kanems opened this issue Dec 4, 2024 · 0 comments
Open

[Merge] MONDO:0859001 & MONDO:0859150 BDV Syndrome #8480

kanems opened this issue Dec 4, 2024 · 0 comments
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kanems commented Dec 4, 2024

Mondo term (ID and Label)
MONDO:0859001 CPE-related Prader-Willi-like syndrome

Reason for deprecation
Orphanet uses syns of BDV syndrome and Blakemore-Durmaz-Vasileiou syndrome
also cites https://pubmed.ncbi.nlm.nih.gov/34383079/ , which are exact matches to OMIM names and citations on the Mondo term below.
UMLS maps them to the same CUI as well.

Term to be merged with
MONDO:0859150 BDV syndrome

Your nano-attribution (ORCID)
If you don't have an ORCID, you can sign up for one here

@kanems kanems added the merge label Dec 4, 2024
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