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
Renal tubulopathy-encephalopathy-liver failure syndrome Orphanet_254902
Unexplained long-lasting fever/inflammatory syndrome Orphanet_251332
Classic mycosis fungoides Orphanet_2584
Microcephaly-cervical spine fusion anomalies syndrome Orphanet_2522
Giant cell glioblastoma Orphanet_251579
46,XY partial gonadal dysgenesis Orphanet_251510
Hyperzincemia and hypercalprotectinemia Orphanet_251523
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Orphanet_2504
Mitochondrial protein import disorder Orphanet_254834
Chronic EBV infection syndrome Orphanet_2566
Primary melanocytic lesion of CNS Orphanet_252028
Primary melanocytic lesion of central nervous system Orphanet_252028
Rare cutaneous lichen planus Orphanet_254370
Rare mucosal lichen planus Orphanet_254373
Annular atrophic lichen planus Orphanet_254411