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
Theca (steroid-producing) cell cancer, not further specified Orphanet_99917
Esophageal squamous cell carcinoma Orphanet_99977
Malignant granulosa cell tumor of the ovary Orphanet_99915
Malignant Sertoli-Leydig cell tumor of the ovary Orphanet_99916
Autosomal dominant cerebellar ataxia Orphanet_99
DS-AMKL in children with Down syndrome Orphanet_99887
DS-AMKL in children with trisomy 21 Orphanet_99887
Mosaic trisomy chromosome 9 Orphanet_99776
TGA with coarctation Orphanet_99042
Pulmonary artery coming from patent ductus arteriosus Orphanet_99049
Pulmonary artery coming from the aorta Orphanet_99050
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome Orphanet_994
Autosomal recessive congenital hypomyelinating neuropathy Orphanet_99951
Right SVC connecting to left-sided atrium Orphanet_99110
Right IVC connecting to left-sided atrium Orphanet_99119