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 IGHD Orphanet_631
Mitchell Syndrome Orphanet_631248
Congenital isolated GH deficiency Orphanet_631
Congenital isolated growth hormone deficiency Orphanet_631
Non-acquired isolated growth hormone deficiency Orphanet_631
Metastases without primary tumor Orphanet_631251
Autosomal dominant spastic paraplegia type 80 Orphanet_631068
Autosomal recessive spastic paraplegia type 82 Orphanet_631073
Autosomal recessive spastic paraplegia type 83 Orphanet_631076
Autosomal recessive spastic paraplegia type 84 Orphanet_631079
Autosomal recessive spastic paraplegia type 85 Orphanet_631082
Autosomal recessive spastic paraplegia type 86 Orphanet_631085
Autosomal recessive spastic paraplegia type 87 Orphanet_631088
Spinocerebellar ataxia type 44 Orphanet_631095
Spinocerebellar ataxia type 48 Orphanet_631103