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
Non-transplant-related bronchiolitis obliterans Orphanet_658612
Spina bifida occulta Orphanet_645202
Mild form of COL6-related dystrophy Orphanet_610
Amaurosis congenita of Leber Orphanet_65
Facial granuloma of Lever Orphanet_615943
Paramyotonia congenita of Von Eulenburg Orphanet_684
Symptomatic form of XLCNM in female carriers Orphanet_604680
Symptomatic form of XLMTM in female carriers Orphanet_604680
Non-syndromic synostosis of all cranial vault sutures Orphanet_620212
Mild form of collagen VI-related dystrophy Orphanet_610
Combined deficiency of factor VII and factor X Orphanet_600691
Segmental hemangioma of infancy Orphanet_675380
Polymorphic eruption of pregnancy Orphanet_64745
Intrahepatic cholestasis of pregnancy Orphanet_69665
Combined form of soft and hard cleft palate Orphanet_664372