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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.
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Transient myeloproliferative syndrome
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Orphanet_420611 |
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Hypopigmentation-hearing loss syndrome
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Orphanet_42665 |
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Carcinoma of the anal canal
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Orphanet_424013 |
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Adenocarcinoma of the anal canal
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Orphanet_424016 |
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Adenocarcinoma of the gallbladder and EBT
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Orphanet_424991 |
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Adenocarcinoma of the gallbladder and extrahepatic biliary tract
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Orphanet_424991 |
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Adenocarcinoma of the liver and IBT
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Orphanet_424943 |
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Adenocarcinoma of the liver and intrahepatic biliary tract
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Orphanet_424943 |
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NET of the small intestine
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Orphanet_423975 |
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Resistance to thyroid stimulating hormone
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Orphanet_424 |
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SCID due to CTPS1 deficiency
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Orphanet_420573 |
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SCN due to JAGN1 deficiency
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Orphanet_423384 |
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GSD due to acid maltase deficiency, late-onset
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Orphanet_420429 |
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Appendiceal epithelial tumor
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Orphanet_423982 |
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Rare epithelial tumor of colon
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Orphanet_423991 |
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