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
DORV, Fallot type Orphanet_99043
APV/PDA, non-Fallot type Orphanet_99048
HMSN, Lom type Orphanet_99950
Pena-Shokeir syndrome type 1 Orphanet_994
Pleuropulmonary blastoma type 1 Orphanet_99933
Spastic gait type 2 Orphanet_99015
Spastic paraparesis type 2 Orphanet_99015
Spastic paraplegia type 2 Orphanet_99015
Pleuropulmonary blastoma type 2 Orphanet_99934
Pleuropulmonary blastoma type 3 Orphanet_99935
Charcot-Marie-Tooth disease type 4A Orphanet_99948
Charcot-Marie-Tooth disease type 4B1 Orphanet_99955
Charcot-Marie-Tooth disease type 4B2 Orphanet_99956
Charcot-Marie-Tooth disease type 4C Orphanet_99949
Charcot-Marie-Tooth disease type 4D Orphanet_99950