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
Dysostosis with brachydactyly Orphanet_69028
Low phospholipid-associated cholelithiasis Orphanet_69663
Gravidic intrahepatic cholestasis Orphanet_69665
Anonychia with flexural pigmentation Orphanet_69125
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome Orphanet_69126
Neonatal membranous glomerulopathy with maternal NEP deficiency Orphanet_69063
Familial renal glucosuria Orphanet_69076
Familial renal glycosuria Orphanet_69076
Bilateral acute depigmentation of the iris Orphanet_69736
Athabascan brainstem dysgenesis syndrome Orphanet_69739
Recurrent intrahepatic cholestasis of pregnancy Orphanet_69665
Athabaskan brainstem dysgenesis syndrome Orphanet_69739
Hair-nail ectodermal dysplasia Orphanet_69084
Alloimmune neonatal renal disease Orphanet_69063
Circumscribed acral hypokeratosis Orphanet_69744