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
Alveolar rhabdomyosarcoma Orphanet_99756
Embryonal rhabdomyosarcoma Orphanet_99757
Bifid uvula Orphanet_99771
Uvular cleft Orphanet_99771
Cleft velum Orphanet_99772
Albinism-deafness syndrome Orphanet_998
Unilateral megalencephaly Orphanet_99802
Haddad syndrome Orphanet_99803
Ondine-Hirschsprung disease Orphanet_99803
Ondine-Hirschsprung syndrome Orphanet_99803
Oculootodental syndrome Orphanet_99806
PEHO-like syndrome Orphanet_99807
Familial porencephaly Orphanet_99810
LIG4 syndrome Orphanet_99812
Lassa fever Orphanet_99824