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
Indeterminate dendritic cell neoplasm Orphanet_158019
Congenital gingival cell tumor Orphanet_157826
Congenital granular cell tumor Orphanet_157826
Indeterminate dendritic cell tumor Orphanet_158019
Trigeminal autonomic cephalalgia Orphanet_157843
EBS with circinate migratory erythema Orphanet_158681
Paramedian facial cleft Orphanet_155867
Superior palpebral coloboma Orphanet_155884
Inferior palpebral coloboma Orphanet_155889
Familial benign copper deficiency Orphanet_1551
Fatal infantile cytochrome C oxidase deficiency Orphanet_1561
Carnitine transporter defect Orphanet_158
Alopecia-progressive neurological defect-endocrinopathy syndrome Orphanet_157954
Costovertebral segmentation defect-mesomelia syndrome Orphanet_1507
Idiopathic immunoglobulin deficiency Orphanet_1572