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
Dermoid cyst of the neck Orphanet_141046
Isolated coloboma of the nose Orphanet_141242
Median cleft of the upper lip and maxilla Orphanet_141239
Cholestasis-pigmentary retinopathy-cleft palate syndrome Orphanet_1415
Familial calcium pyrophosphate deposition Orphanet_1416
Hereditary calcium pyrophosphate deposition Orphanet_1416
Nasal dermoid sinus cyst Orphanet_141103
Congenital subglottic stenosis Orphanet_141121
Congenital tracheal stenosis Orphanet_141127
Uncombable hair syndrome Orphanet_1410
Tarsal-carpal coalition syndrome Orphanet_1412
MED12-related Hardikar syndrome Orphanet_1415
Isolated congenital syngnathia Orphanet_141214
Teratoma of the nasopharynx Orphanet_141107
Oral-facial-digital syndrome type 11 Orphanet_141000