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
Hereditary clear cell renal cell adenocarcinoma Orphanet_422526
Hereditary clear cell renal cell carcinoma Orphanet_422526
Osteoclastic giant cell tumor of pancreas Orphanet_424080
Pancreatic mucinous cystadenocarcinoma Orphanet_424053
Pancreatic serous cystadenocarcinoma Orphanet_424073
Apolipoprotein A-I deficiency Orphanet_425
Familial apoA-I deficiency Orphanet_425
Alpha-1,4-glucosidase acid deficiency, late-onset Orphanet_420429
Semicircular canal dehiscence syndrome Orphanet_420402
Transient myeloproliferative disease Orphanet_420611
Glycogen storage disease type 2, late-onset Orphanet_420429
Glycogen storage disease type II, late-onset Orphanet_420429
Intrahepatic bile duct cystadenocarcinoma Orphanet_424982
Bleeding disorder due to CalDAG-GEFI deficiency Orphanet_420566
Familial hyperthyroidism due to mutations in TSH receptor Orphanet_424