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
Castro Gago-Pombo-Novo syndrome Orphanet_2513
Microcephaly-albinism-digital anomalies syndrome Orphanet_2513
Central nervous system embryonal tumor Orphanet_251870
Central nervous system primitive neuroectodermal tumor Orphanet_251870
Short Achilles tendon Orphanet_251515
46,XY partial testicular dysgenesis Orphanet_251510
Overlapping connective tissue disease Orphanet_251312
Choroid plexus tumor Orphanet_251896
Mixed neuronal-glial tumor Orphanet_251934
Dysembryoplastic neuroepithelial tumor Orphanet_251946
Papillary glioneuronal tumor Orphanet_251962
Rosette-forming glioneuronal tumor Orphanet_251975
Pineal parenchymal tumor of intermediate differentiation Orphanet_251919
Distal arthrogryposis type 10 Orphanet_251515
Familial hyperaldosteronism type 3 Orphanet_251274