ORDO Find_IDs Find_Terms Annotation
manager
language -
license -
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
Isolated pulmonary artery sling Orphanet_658574
Eyelid sebaceous carcinoma Orphanet_658590
Microcephaly-short stature-intellectual disability syndrome Orphanet_658595
DNMT3A-related microcephalic dwarfism Orphanet_658595
Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome Orphanet_658843
Idiopathic small fibers neuropathy Orphanet_658549
Greig cephalopolysyndactyly-contiguous gene syndrome Orphanet_658805
COQ7-related distal hereditary motor neuropathy Orphanet_658778
Isolated anomalous left pulmonary artery Orphanet_658574
Transplant-related bronchiolitis obliterans Orphanet_658602
Non-transplant-related bronchiolitis obliterans Orphanet_658612
Isolated left pulmonary artery sling Orphanet_658574
16q22 deletion syndrome Orphanet_658540
Bronchiolitis obliterans syndrome Orphanet_658602