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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 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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Salcedo syndrome
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Orphanet_2613 |
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Paternal del(20)(q13.2q13.3)
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Orphanet_261304 |
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Monosomy 20q13.33
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Orphanet_261311 |
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Trisomy 20p
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Orphanet_261318 |
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Monosomy 21q22.11q22.12
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Orphanet_261323 |
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Distal del(22)(q11.2)
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Orphanet_261330 |
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Distal dup(22)(q11.2)
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Orphanet_261337 |
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Duplication 1q
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Orphanet_261344 |
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