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