ORDO Find_IDs Find_Terms Annotation
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created at 2024-09-23 16:23:50 UTC
updated at 2024-09-23 18:22:39 UTC
Terms for rare diseases as defined in ORDO.
The entries were initially sourced from the ORDO version 2024-07-03 as stored in BioPortal.
Namespace: http://www.orpha.net/ORDO/
20,514 entries
Label
Id
MGA8 Orphanet_505208
MGA9 Orphanet_505216
VIDD Orphanet_505395
Piccardi-Lassueur-Little syndrome Orphanet_505
CDKL5-deficiency disorder Orphanet_505652
Cerebrorenal syndrome, Perez type Orphanet_505242
Mucopolysaccharidosis-like plus disease Orphanet_505248
Combined immunodeficiency due to GINS1 deficiency Orphanet_505227
Ventilator-induced diaphragmatic dysfunction Orphanet_505395
Graham Little syndrome Orphanet_505
Graham Little-Piccardi-Lassueur syndrome Orphanet_505
CID due to GINS1 deficiency Orphanet_505227
3-methylglutaconic aciduria type 8 Orphanet_505208
3-methylglutaconic aciduria type 9 Orphanet_505216