MedGen Find_IDs Find_Terms Annotation
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created at 2024-09-19 07:43:07 UTC
updated at 2024-09-23 18:19:38 UTC
MedGen CUI
Namespace: https://www.ncbi.nlm.nih.gov/medgen/
622,528 entries
Label
Id
ACTB-AST CN305588
ACTB-associated syndromic thrombocytopenia CN305588
thrombocytopenia 8, with dysmorphic features and developmental delay CN305588