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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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16p11.2p12.2 microdeletion syndrome
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Orphanet_261211 |
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14q11.2 microduplication syndrome
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Orphanet_261229 |
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16p13.11 microdeletion syndrome
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Orphanet_261236 |
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16p13.11 microduplication syndrome
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Orphanet_261243 |
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16q24.3 microdeletion syndrome
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Orphanet_261250 |
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17q12 microdeletion syndrome
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Orphanet_261265 |
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17q12 microduplication syndrome
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Orphanet_261272 |
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17q23.1q23.2 microdeletion syndrome
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Orphanet_261279 |
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20p12.3 microdeletion syndrome
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Orphanet_261295 |
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20q13.33 microdeletion syndrome
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Orphanet_261311 |
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21q22.11q22.12 microdeletion syndrome
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Orphanet_261323 |
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2p15p16.1 microdeletion syndrome
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Orphanet_261349 |
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Xp21 deletion syndrome
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Orphanet_261476 |
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Xp21 microdeletion syndrome
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Orphanet_261476 |
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Xq27.3-q28 microduplication syndrome
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Orphanet_261483 |
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