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
Deafness-vitiligo-achalasia syndrome Orphanet_3239
Anderson-Fabry disease Orphanet_324
Diffuse angiokeratoma Orphanet_324
Fabry disease Orphanet_324
Deafness-craniofacial syndrome Orphanet_3241
Renpenning syndrome Orphanet_3242
Paraganglioma-somatostatinoma-polycythemia syndrome Orphanet_324299
Sweet syndrome Orphanet_3243
Monosomy 9p13 Orphanet_324313
Congenital achiasma Orphanet_324353
Cole disease Orphanet_324561
Learman syndrome Orphanet_3246
Gardner-Diamond syndrome Orphanet_324636
Psychogenic purpura Orphanet_324636
iNTS disease Orphanet_324648