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
Oculocutaneous albinism type 1A Orphanet_79431
Oculocutaneous albinism type 1B Orphanet_79434
Oculocutaneous albinism type 2 Orphanet_79432
Griscelli syndrome type 2 Orphanet_79477
Griscelli-Pruniéras syndrome type 2 Orphanet_79477
Phakomatosis pigmentovascularis type 2 Orphanet_79483
Oculocutaneous albinism type 3 Orphanet_79433
Griscelli syndrome type 3 Orphanet_79478
Griscelli-Pruniéras syndrome type 3 Orphanet_79478
Phakomatosis pigmentovascularis type 3 Orphanet_79485
Oculocutaneous albinism type 4 Orphanet_79435
Phakomatosis pigmentovascularis type 5 Orphanet_79484
Hereditary lymphedema type I Orphanet_79452
Inflammatory linear verrucous epidermal nevus Orphanet_79466