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
cutis laxa, autosomal recessive, type IIIA C5234852
DE BARSY SYNDROME A C5234852
cutis laxa, corneal clouding, and mental retardation C5234852
De Barsy syndrome A C5234852
De Barsy syndrome a C5234852
autosomal recessive cutis laxa type IIIA C5234852
Autosomal recessive cutis laxa type IIIa C5234852
progeroid syndrome of De Barsy C5234852
Delta-1-pyrroline 5-carboxylate synthetase deficiency C5234852