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created at |
2024-09-23 16:23:50 UTC |
updated at |
2024-09-23 18:22:39 UTC |
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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/
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20,514 entries
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There is 0 pattern entry.
Rectal squamous cell carcinoma
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Orphanet_424002 |
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Pancreatic squamous cell carcinoma
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Orphanet_424039 |
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Pancreatic acinar cell carcinoma
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Orphanet_424046 |
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Osteoclastic giant cell tumor of pancreas
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Orphanet_424080 |
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Pancreatic mucinous cystadenocarcinoma
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Orphanet_424053 |
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Pancreatic serous cystadenocarcinoma
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Orphanet_424073 |
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Intrahepatic bile duct cystadenocarcinoma
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Orphanet_424982 |
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Familial hyperthyroidism due to mutations in TSH receptor
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Orphanet_424 |
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Microphthalmia-coloboma-rhizomelic skeletal dysplasia
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Orphanet_424099 |
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Colobomatous microphthalmia-rhizomelic dysplasia syndrome
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Orphanet_424099 |
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Progressive myoclonic epilepsy due to CERS1 deficiency
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Orphanet_424027 |
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Progressive myoclonic epilepsy type 8
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Orphanet_424027 |
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Progressive myoclonus epilepsy type 8
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Orphanet_424027 |
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Rare pancreatic epithelial tumor
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Orphanet_424033 |
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Rare malignant epithelial tumor of liver and IBT
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Orphanet_424933 |
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