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
Isolated unilamboid craniosynostosis Orphanet_620113
Non-syndromic unilambdoid craniosynostosis Orphanet_620113
Isolated unifrontosphenoidal craniosynostosis Orphanet_620139
Non-syndromic unifrontosphenoidal craniosynostosis Orphanet_620139
Isolated unisquamosal craniosynostosis Orphanet_620146
Non-syndromic unisquamosal craniosynostosis Orphanet_620146
Isolated multisutural craniosynostosis Orphanet_620152
Non-syndromic multisutural craniosynostosis Orphanet_620152
Isolated bilambdoid craniosynostosis Orphanet_620178
Non-syndromic bilambdoid craniosynostosis Orphanet_620178
Paraneoplastic cerebellar degeneration Orphanet_623626
Subacute cerebellar degeneration Orphanet_623626
Short stature due to growth hormone qualitative anomaly Orphanet_629
Body integrity dysphoria Orphanet_623789
MIR140-related spondyloepiphyseal dysplasia Orphanet_623695