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Developmental and epileptic encephalopathy 31A, autosomal dominant #8019

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galyea123 opened this issue Jul 30, 2024 · 1 comment · May be fixed by #8605
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Developmental and epileptic encephalopathy 31A, autosomal dominant #8019

galyea123 opened this issue Jul 30, 2024 · 1 comment · May be fixed by #8605
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@nicolevasilevsky
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epilepsy synonym user request A request from an external user

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@galyea123
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Mondo term

developmental and epileptic encephalopathy, 31

Synonyms

developmental and epileptic encephalopathy-31A (DEE31A), DNM1-Related Epilepsy and Neurodevelopmental Disorder

Synonym type

exact

Additional comments

I noticed that the main term in OMIM was not included in the list of synonyms. I also requested to add the synonym "DNM1-Related Epilepsy and Neurodevelopmental Disorder" as NORD has a report on this condition. Thank you! Gioconda
@galyea123
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Adding more information to this ticket: DNM1 mutations can cause two conditions:
"Developmental end epileptic encephalopathy 31A, autosomal dominant" (OMIM 616346) which, as commented, you list in MONDO as "developmental and epileptic encephalopathy, 31" and it is linked to OMIM 616346.

and "Developmental and epileptic encephalopathy 31B, autosomal recessive" (already in MONDO). Thanks, Gioconda

@sagehrke sagehrke added the user request A request from an external user label Aug 20, 2024
@nicolevasilevsky nicolevasilevsky self-assigned this Oct 16, 2024
nicolevasilevsky added a commit that referenced this issue Jan 20, 2025
@nicolevasilevsky
revise synonyms for 'developmental and epileptic encephalopathy, 31A'
d0c5353 
close #8019
@nicolevasilevsky nicolevasilevsky linked a pull request Jan 20, 2025 that will close this issue
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revise synonyms for 'developmental and epileptic encephalopathy, 31A' monarch-initiative/mondo
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@nicolevasilevsky @sabrinatoro @sagehrke @galyea123