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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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Trisomy 1q
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Orphanet_261344 |
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Monosomy 2p15p16.1
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Orphanet_261349 |
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Nail-patella syndrome
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Orphanet_2614 |
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Turner-Kieser syndrome
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Orphanet_2614 |
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Complex GKD
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Orphanet_261476 |
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Trisomy Xq27.3-q28
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Orphanet_261483 |
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Trisomy Xq27.3q28
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Orphanet_261483 |
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Kleefstra syndrome
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Orphanet_261494 |
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49,XXXYY syndrome
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Orphanet_261534 |
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3-M syndrome
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Orphanet_2616 |
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3M syndrome
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Orphanet_2616 |
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Distal del(17)(p13.3 )
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Orphanet_261257 |
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Proximal monosomy 16p11.2
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Orphanet_261197 |
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Distal monosomy 16p11.2
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Orphanet_261222 |
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Distal monosomy 17p13.3
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Orphanet_261257 |
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