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
Periventricular nodular heterotopia Orphanet_98892
Macrophage or histiocytic tumor Orphanet_98288
Genetic anterior horn cell disease Orphanet_98505
Acquired anterior horn cell disease Orphanet_98506
Non-syndromic pontocerebellar hypoplasia Orphanet_98523
46,XX DSD induced by androgens excess Orphanet_98078
Rare male infertility Orphanet_98048
Rare female infertility Orphanet_98049
Coloboma of iris Orphanet_98944
Autosomal dominant isolated diffuse palmoplantar hyperkeratosis Orphanet_98349
Autosomal recessive isolated diffuse palmoplantar hyperkeratosis Orphanet_98356
Autosomal dominant isolated diffuse palmoplantar keratoderma Orphanet_98349
Autosomal recessive isolated diffuse palmoplantar keratoderma Orphanet_98356
Autosomal recessive isolated optic atrophy Orphanet_98676
Acquired neuromuscular junction disease Orphanet_98494