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
ARCL3A C5234852
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA C5234852
P5CS deficiency C5234852
Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome C5234852
ALDH18A1-related De Barsy syndrome C5234852
ALDH18A1-related de Barsy syndrome C5234852
Neurocutaneous syndrome Bicknell type C5234852
Neurocutaneous syndrome, Bicknell type C5234852
neurocutaneous syndrome, Bicknell type C5234852
CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION C5234852
ALDH18A1-Related Cutis Laxa C5234852
DE BARSY SYNDROME A C5234852
PROGEROID SYNDROME OF DE BARSY C5234852
cutis laxa, corneal clouding, and intellectual disability C5234852
Cutis laxa, autosomal recessive IIIA C5234852