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
CIMDAG syndrome Orphanet_603448
COMMAD syndrome Orphanet_603494
PERCHING syndrome Orphanet_603684
Distal myopathy, Welander type Orphanet_603
Recessive KLHL7-related disorder Orphanet_603699
Isolated female hypospadias Orphanet_603515
KLHL7-related Crisponi/cold-induced sweating-like syndrome Orphanet_603694
KLHL7-related BOS-like syndrome Orphanet_603689
KLHL7-related Bohring-Opitz-like syndrome Orphanet_603689
KLHL7-related Crisponi-like syndrome Orphanet_603694