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
KIF7-Related Joubert Syndrome C0796147
Absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly C0796147
absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly C0796147
hallux Duplication, postaxial polydactyly, and absence of corpus callosum C0796147
Schinzel acrocallosal syndrome C0796147