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
BFLS Orphanet_127
Borjeson-Forssman-Lehmann syndrome Orphanet_127
Bowen-Conradi syndrome Orphanet_1270
Aymé-Gripp syndrome Orphanet_1272
Fine-Lubinsky syndrome Orphanet_1272
Liebenberg syndrome Orphanet_1275
Bilginturan brachydactyly Orphanet_1276
Bilginturan syndrome Orphanet_1276
Stratton-Garcia-Young syndrome Orphanet_1277
Brachydactyly type E, with short stature and hypertension Orphanet_1276
Bowen syndrome, Hutterite type Orphanet_1270
Intellectual disability-epilepsy-endocrine disorders syndrome Orphanet_127
Brachydactyly-elbow wrist dysplasia syndrome Orphanet_1275
Brachycephaly-deafness-cataract-intellectual disability syndrome Orphanet_1272
Brachydactyly-joint dysplasia syndrome Orphanet_1275