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
Alagille syndrome due to del(20)(p12) Orphanet_261600
Okihiro syndrome due to del(20)(q13) Orphanet_261638
Alagille syndrome due to monosomy 20p12 Orphanet_261600
Alagille-Watson syndrome due to monosomy 20p12 Orphanet_261600
Arteriohepatic dysplasia due to monosomy 20p12 Orphanet_261600
Okihiro syndrome due to monosomy 20q13 Orphanet_261638
Yakut short stature syndrome Orphanet_2616
Duane-radial ray syndrome due to a point mutation Orphanet_261647
Duane-radial ray syndrome due to monosomy 20q13 Orphanet_261638