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
Familial primary localized cutaneous amyloidosis Orphanet_353220
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 Orphanet_353
Vasoproliferative tumor of the ocular fundus Orphanet_353356
Vasoproliferative tumor of the retina Orphanet_353356
Burning mouth syndrome Orphanet_353253
Congenital myasthenic syndromes with glycosylation defect Orphanet_353327
Idiopathic macular telangiectasia type 1 Orphanet_353344
Idiopathic macular telangiectasia type 3 Orphanet_353351
LGMD due to gamma-sarcoglycan deficiency Orphanet_353
Retinal vasoproliferative tumor Orphanet_353356
Epileptic encephalopathy with global cerebral demyelination Orphanet_353217