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
CPS1D Orphanet_147
CPS1 deficiency Orphanet_147
Sorsby syndrome Orphanet_1471
Papillo-renal syndrome Orphanet_1475
Interatrial communication Orphanet_1478
Interauricular communication Orphanet_1478
Carbamoyl-phosphate synthetase 1 deficiency Orphanet_147
Carbamoyl-phosphate synthetase I deficiency Orphanet_147
Atrial septal defect Orphanet_1478
Carbamoyl-phosphate synthetase deficiency Orphanet_147
Uveal coloboma-cleft lip and palate-intellectual disability Orphanet_1473
Coloboma of macula-brachydactyly type B syndrome Orphanet_1471
Coloboma of optic nerve with renal disease Orphanet_1475
Renal coloboma syndrome Orphanet_1475