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
Deficiency of adenylosuccinate lyase C0268126
Adenylosuccinate lyase deficiency C0268126
adenylosuccinase lyase deficiency C0268126
adenylosuccinate lyase deficiency C0268126
inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity C0268126