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
Achondrogenesis Orphanet_932
Hypochondrogenesis Orphanet_93297
FXTAS syndrome Orphanet_93256
Crouzon-dermoskeletal syndrome Orphanet_93262
Jaffe-Lichtenstein disease Orphanet_93277
Pancreatic adenoma Orphanet_93292
Okihiro syndrome Orphanet_93293
Achondrogenesis type 1A Orphanet_93299
Achondrogenesis type 1B Orphanet_93298
Achondrogenesis type 2 Orphanet_93296
Spondyloepiphyseal dysplasia, Kimberley type Orphanet_93283
Spondyloepimetaphyseal dysplasia, PAPSS2 type Orphanet_93282
Spondyloepimetaphyseal dysplasia, Pakistani type Orphanet_93282
Cloverleaf skull-micromelic bone dysplasia syndrome Orphanet_93274
Cloverleaf skull-multiple congenital anomalies syndrome Orphanet_93267