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
Aicardi-Goutieres syndrome caused by mutation in TREX1 C0796126
encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis C0796126
TREX1 Aicardi-Goutieres syndrome C0796126
Aicardi-Goutieres syndrome type 1 C0796126