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
ARCL3B C3280799
Pyrroline-5-carboxylate reductase 1 deficiency C3280799
PYCR1 deficiency C3280799
pyrroline-5-carboxylate reductase 1 deficiency C3280799
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome C3280799
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB C3280799
DE BARSY SYNDROME B C3280799
PYCR1 de Barsy syndrome C3280799
PYCR1-related De Barsy syndrome C3280799
PYCR1-related de Barsy syndrome C3280799
cutis laxa, autosomal recessive, type 3B C3280799
cutis laxa, autosomal recessive, type IIIB C3280799
Autosomal recessive cutis laxa type 3B C3280799
autosomal recessive cutis laxa type IIIB C3280799
Autosomal recessive cutis laxa type IIIb C3280799