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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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Distal del(16)(p11.2)
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Orphanet_261222 |
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Trisomy 14q11.2
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Orphanet_261229 |
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Monosomy 16p13.11
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Orphanet_261236 |
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Trisomy 16p13.11
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Orphanet_261243 |
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Monosomy 16q24.3
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Orphanet_261250 |
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Monosomy 17q12
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Orphanet_261265 |
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Trisomy 17q12
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Orphanet_261272 |
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Monosomy 17q23.1q23.2
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Orphanet_261279 |
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Trisomy 17p
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Orphanet_261290 |
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Monosomy 20p12.3
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Orphanet_261295 |
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Distal del(17)(p13.3 )
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Orphanet_261257 |
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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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Distal 16p11.2 microdeletion syndrome
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Orphanet_261222 |
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Distal 17p13.3 microdeletion syndrome
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Orphanet_261257 |
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