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
Milian atrophie blanche Orphanet_542643
TRIM22-related inflammatory bowel disease Orphanet_597201
ALPI-related inflammatory bowel disease Orphanet_597887
Diaphragmatic hernia-short bowel-asplenia syndrome Orphanet_527468
Intermediate epidermolysis bullosa simplex with cardiomyopathy Orphanet_508529
Generalized arterial calcification of infancy Orphanet_51608
Leukoencephalopathy with calcifications and cysts Orphanet_542310
Familial tumoral calcinosis Orphanet_53715
Intermediate atrioventricular canal defect Orphanet_576242
Transitional atrioventricular canal defect Orphanet_576242
Inherited gynecological cancer-predisposing syndrome Orphanet_589746
Pancreatic neuroendocrine carcinoma Orphanet_506098
Combined hepatocellular carcinoma and cholangiocarcinoma Orphanet_529852
Squamous cell carcinoma of oral cavity and lip Orphanet_502369
Squamous cell carcinoma of salivary glands Orphanet_500481