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
Reginato-Schiapachasse syndrome Orphanet_1525
Craniotelencephalic dysplasia Orphanet_1528
Craniofacial-deafness-hand syndrome Orphanet_1529
Sommer-Young-Wee-Frye syndrome Orphanet_1529
Gómez-López-Hernández syndrome Orphanet_1532
Braddock-Jones-Superneau syndrome Orphanet_1538
Jackson-Weiss syndrome Orphanet_1540
Warman-Mulliken-Hayward syndrome Orphanet_1541
Crisponi syndrome Orphanet_1545
Cryptomicrotia-brachydactyly syndrome Orphanet_1547
Tonoki-Ohura-Niikawa syndrome Orphanet_1547
Currarino syndrome Orphanet_1552
Currarino triad Orphanet_1552
Curry-Jones syndrome Orphanet_1553
Otomandibular dysplasia Orphanet_155896