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
Progressive myoclonic epilepsy due to KCTD7 deficiency Orphanet_263516
Progressive myoclonic epilepsy type 3 Orphanet_263516
Progressive myoclonus epilepsy type 3 Orphanet_263516
Primary thymic epithelial neoplasm type A Orphanet_263310
Primary thymic epithelial neoplasm type AB Orphanet_263324
Primary thymic epithelial neoplasm type B Orphanet_263317
Primary thymic epithelial tumor type A Orphanet_263310
Primary thymic epithelial tumor type AB Orphanet_263324
Primary thymic epithelial tumor type B Orphanet_263317
Carbohydrate deficient glycoprotein syndrome type IIg Orphanet_263508
Carbohydrate deficient glycoprotein syndrome type IIi Orphanet_263487
Carbohydrate deficient glycoprotein syndrome type IIj Orphanet_263501
Carbohydrate deficient glycoprotein syndrome type Io Orphanet_263494
Fuchs heterochromic iridocyclitis Orphanet_263479
Familial multiple meningioma Orphanet_263662