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
PYCR1 deficiency C3280799
Pyrroline-5-carboxylate reductase 1 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
PYCR1 de Barsy syndrome C3280799
PYCR1-related De Barsy syndrome C3280799
PYCR1-related de Barsy syndrome C3280799
Disorder due to pyrroline-5-carboxylate reductase 1 deficiency C3280799
DE BARSY SYNDROME B C3280799
Autosomal recessive cutis laxa type 3B C3280799
autosomal recessive cutis laxa type IIIB C3280799
Autosomal recessive cutis laxa type IIIb C3280799
De Barsy syndrome B C3280799