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
Rectal squamous cell carcinoma Orphanet_424002
Pancreatic squamous cell carcinoma Orphanet_424039
Pancreatic acinar cell carcinoma Orphanet_424046
Osteoclastic giant cell tumor of pancreas Orphanet_424080
Pancreatic mucinous cystadenocarcinoma Orphanet_424053
Pancreatic serous cystadenocarcinoma Orphanet_424073
Intrahepatic bile duct cystadenocarcinoma Orphanet_424982
Familial hyperthyroidism due to mutations in TSH receptor Orphanet_424
Microphthalmia-coloboma-rhizomelic skeletal dysplasia Orphanet_424099
Colobomatous microphthalmia-rhizomelic dysplasia syndrome Orphanet_424099
Progressive myoclonic epilepsy due to CERS1 deficiency Orphanet_424027
Progressive myoclonic epilepsy type 8 Orphanet_424027
Progressive myoclonus epilepsy type 8 Orphanet_424027
Rare pancreatic epithelial tumor Orphanet_424033
Rare malignant epithelial tumor of liver and IBT Orphanet_424933