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
Syndromic bile duct paucity Orphanet_52
Hao-Fountain syndrome due to 16p13.2 microdeletion Orphanet_500055
Combined immunodeficiency due to CARMIL2 deficiency Orphanet_542301
Combined immunodeficiency due to CD70 deficiency Orphanet_538958
Furuncular myiasis due to Cordylobia anthropophaga Orphanet_563687
Furunculoid myiasis due to Cordylobia anthropophaga Orphanet_563687
Furunculous myiasis due to Cordylobia anthropophaga Orphanet_563687
Furuncular myiasis due to Cordylobia rodhaini Orphanet_563690
Furunculoid myiasis due to Cordylobia rodhaini Orphanet_563690
Furunculous myiasis due to Cordylobia rodhaini Orphanet_563690
Furuncular myiasis due to Dermatobia hominis Orphanet_563684
Furunculoid myiasis due to Dermatobia hominis Orphanet_563684
Furunculous myiasis due to Dermatobia hominis Orphanet_563684
Combined immunodeficiency due to GINS1 deficiency Orphanet_505227
Combined immunodeficiency due to ITK deficiency Orphanet_538963