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
Adult-onset autosomal dominant leukodystrophy Orphanet_99027
Congenital patent ductus arteriosus aneurysm Orphanet_99072
Adult-onset foveomacular dystrophy Orphanet_99000
Pseudo-vitelliform macular dystrophy Orphanet_99000
Butterfly-shaped pattern dystrophy Orphanet_99001
Butterfly-shaped pigment dystrophy Orphanet_99001
Multifocal pattern dystrophy simulating Stargardt disease Orphanet_99003
Multifocal pattern dystrophy simulating fundus flavimaculatus Orphanet_99003
Pulmonary artery hypoplasia Orphanet_99083
Adult-onset vitelliform macular dystrophy Orphanet_99000
Butterfly-shaped pigmentary macular dystrophy Orphanet_99001
Discrete fixed membranous subaortic stenosis Orphanet_99051
Congenital unguarded mitral orifice Orphanet_99060
Congenital supravalvular mitral ring Orphanet_99059
DORV with non-committed subpulmonary VSD Orphanet_99046