ORDO Find_IDs Find_Terms Annotation
manager
language -
license -
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
NFJ syndrome Orphanet_69087
Naegeli syndrome Orphanet_69087
Naegeli-Franceschetti-Jadassohn syndrome Orphanet_69087
PAPA syndrome Orphanet_69126
ABCB4-related cholelithiasis Orphanet_69663
Pregnancy-related cholestasis Orphanet_69665
Bosley-Salih-Alorainy syndrome Orphanet_69737
Follicular dyskeratoma Orphanet_69745
Warty dyskeratoma Orphanet_69745
Pearson syndrome Orphanet_699
Tyrosinemia type 3 Orphanet_69723
Tyrosinemia type III Orphanet_69723
Pure hair and nail ectodermal dysplasia Orphanet_69084
Familial recurrent arthritis Orphanet_69126
Dysostosis with brachydactyly Orphanet_69028