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SNAP25 Developmental and Epileptic Encephalopathy #8200

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galyea123 opened this issue Sep 24, 2024 · 0 comments
Open

SNAP25 Developmental and Epileptic Encephalopathy #8200

galyea123 opened this issue Sep 24, 2024 · 0 comments
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synonym user request A request from an external user

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@galyea123
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Mondo term

congenital myasthenic syndrome 18 MONDO:0014590

Synonyms

SNAP25-DEE

Synonym type

exact

Additional comments

We have received a message from a support organization of the SANP25 Foundation requesting to add this term. In addition, as most patients do not present with congenital myastenia as the main problem it may be better to use the term SNAP25 Developmental and Epileptic Encephalopathy as the main term. Thank you, Gioconda Alyea
@sagehrke sagehrke added the user request A request from an external user label Sep 30, 2024
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@sagehrke @galyea123