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
AICA-ribosiduria Orphanet_250977
Acrogeria Orphanet_2500
Acrometageria Orphanet_2500
CCSF Orphanet_2505
Del(1)(q21) Orphanet_250989
Del(1)(q41q42) Orphanet_250999
Dup(1)(q21.1) Orphanet_250994
Serpinopathy Orphanet_250805
Frontonasal dysplasia Orphanet_250
Gottron syndrome Orphanet_2500
Genetic polycythemia Orphanet_250165
Kunze-Riehm syndrome Orphanet_2505
Proud syndrome Orphanet_2508
Proud-Levine-Carpenter syndrome Orphanet_2508
Isolated aniridia Orphanet_250923