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[Merge] MONDO:0034099 'SYNGAP1-related developmental and epileptic encephalopathy' #8324

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nicolevasilevsky opened this issue Nov 8, 2024 · 0 comments

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@nicolevasilevsky
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Mondo term (ID and Label)
MONDO:0034099 'SYNGAP1-related developmental and epileptic encephalopathy'

Reason for deprecation
Orphanet cross-references OMIM:
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5; MRD5
https://omim.org/entry/612621

Term to be merged with
MONDO:0012960 'intellectual disability, autosomal dominant 5'

@ahamosh do you think these two terms are equivalent? The OMIM term is not in the DEE phenotypic series, but according to the Orphanet label (SYNGAP1-related developmental and epileptic encephalopathy), it seems like it should be?

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