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MONDO:0859762 & MONDO:0033667 #8461

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kanems opened this issue Nov 29, 2024 · 0 comments
Open

MONDO:0859762 & MONDO:0033667 #8461

kanems opened this issue Nov 29, 2024 · 0 comments
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kanems commented Nov 29, 2024

Mondo term (ID and Label)
MONDO:0859762
SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
Reason for deprecation
ORDO http://www.orpha.net/ORDO/Orphanet_633024 reports this record is an exact match to the OMIM entry on another Mondo record- OMIM:619083
UMLS also treats these as synonyms on C5436771 based on shared PREF name from OMIM and Syn from OrphaNet.

Term to be merged with
MONDO:0033667 Delpire-McNeill 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 Nov 29, 2024
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