ORDO Find_IDs Find_Terms Annotation
manager
language -
license -
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
Arts syndrome Orphanet_1187
Reardon-Baraitser syndrome Orphanet_1188
Infantile-onset spinocerebellar ataxia Orphanet_1186
Ataxia-hearing loss-intellectual disability syndrome Orphanet_1188
Dancing eye-dancing feet syndrome Orphanet_1183
Autosomal dominant spastic ataxia type 7 Orphanet_1182
Ataxia-hypogonadism-choroidal dystrophy syndrome Orphanet_1180
Dancing eye syndrome Orphanet_1183
Paraneoplastic opsoclonus-myoclonus-ataxia syndrome Orphanet_1183
Ataxia-photosensitivity-short stature syndrome Orphanet_1184
Spinocerebellar ataxia-dysmorphism syndrome Orphanet_1185
Ataxia-deafness-intellectual disability syndrome Orphanet_1188
Spastic ataxia with congenital miosis Orphanet_1182
Lethal ataxia with deafness and optic atrophy Orphanet_1187
Lethal ataxia with hearing loss and optic atrophy Orphanet_1187