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
Complete hydatidiform mole Orphanet_254688
Incomplete hydatidiform mole Orphanet_254693
Partial hydatidiform mole Orphanet_254693
EBS with muscular dystrophy Orphanet_257
Merosin-negative congenital muscular dystrophy Orphanet_258
Plectin-related limb-girdle muscular dystrophy R17 Orphanet_254361
Maternally-inherited mitochondrial myopathy Orphanet_254788
mtDNA-related mitochondrial myopathy Orphanet_254788
Pure mitochondrial myopathy Orphanet_254854
Tubular aggregate myopathy Orphanet_2593
Benign peripheral nerve sheath tumor Orphanet_252131
Melanoma and neural system tumor syndrome Orphanet_252206
Atypical papilloma of choroid plexus Orphanet_251902
Rare tumor of cranial and spinal nerves Orphanet_252057
Malignant melanoma of meninges Orphanet_252050