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
Follicular atrophoderma and basal cell carcinomas Orphanet_113
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome Orphanet_1144
Ocular motor apraxia, Cogan type Orphanet_1125
Congenital contractural arachnodactyly Orphanet_115
X-linked branchial arch syndrome Orphanet_1131
X-linked distal arthrogryposis multiplex congenita Orphanet_1145
Progressive pseudorheumatoid arthropathy of childhood Orphanet_1159
Allergic bronchopulmonary aspergillosis Orphanet_1164
Infantile-onset spinocerebellar ataxia Orphanet_1186
Early-onset cerebellar ataxia with retained tendon reflexes Orphanet_1177
Congenital esophageal atresia Orphanet_1199
Spinal muscular atrophy with arthrogryposis Orphanet_1145
Autosomal recessive cerebellar ataxia Orphanet_1172
X-linked progressive cerebellar ataxia Orphanet_1175
Autosomal recessive cerebelloparenchymal disorder type 3 Orphanet_1170