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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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ABetaL34V amyloidosis
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Orphanet_324703 |
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ABetaL34V-related amyloidosis
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Orphanet_324703 |
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ABetaD23N amyloidosis
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Orphanet_324708 |
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ABetaE22K amyloidosis
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Orphanet_324713 |
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ABetaA21G amyloidosis
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Orphanet_324718 |
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ABetaA21G-related amyloidosis
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Orphanet_324718 |
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ABetaE22G amyloidosis
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Orphanet_324723 |
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Trichorhinophalangeal syndrome
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Orphanet_324764 |
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MAGIC syndrome
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Orphanet_324972 |
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ALDD syndrome
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Orphanet_324977 |
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Autoinflammation-lipodystrophy-dermatosis syndrome
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Orphanet_324977 |
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Prothrombin deficiency
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Orphanet_325 |
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Proximal symphalangism
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Orphanet_3250 |
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Bilateral anorchia
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Orphanet_325124 |
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Testicular agenesis
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Orphanet_325124 |
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