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
Infantile epilepsy syndrome Orphanet_98258
Childhood-onset epilepsy syndrome Orphanet_98259
Adolescent-onset epilepsy syndrome Orphanet_98260
Testicular regression syndrome Orphanet_983
Vanishing testes syndrome Orphanet_983
Vanishing testis syndrome Orphanet_983
Absent tibia-polydactyly syndrome Orphanet_988
Unclassified myelodysplastic syndrome Orphanet_98827
Miller Fisher syndrome Orphanet_98919
Autosomal recessive syndromic cerebellar ataxia Orphanet_98099
Lacrimal drainage system anomaly Orphanet_98605
Rare nervous system disease Orphanet_98006
Rare circulatory system disease Orphanet_98028
Rare lacrimal system disease Orphanet_98602
Central nervous system malformation Orphanet_98044