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
Congenital gingival cell tumor Orphanet_157826
Congenital granular cell tumor Orphanet_157826
Trigeminal autonomic cephalalgia Orphanet_157843
Pterin-4 alpha-carbinolamine dehydratase deficiency Orphanet_1578
Adult basal ganglia disease Orphanet_157846
Pantothenate kinase-associated neurodegeneration Orphanet_157850
Congenital pseudoarthrosis of the limbs Orphanet_157808
Isolated pseudoarthrosis of the limbs Orphanet_157808
Hyperphenylalaninemia with primapterinuria Orphanet_1578
Isolated congenital pseudarthrosis of the limbs Orphanet_157808
Mesoaxial synostotic syndactyly with phalangeal reduction Orphanet_157801
Cold-induced sweating syndrome Orphanet_157820
Hyperphenylalaninemia due to dehydratase deficiency Orphanet_1578
Syndactyly, Malik-Percin type Orphanet_157801