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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.
Distal trisomy 20q
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Orphanet_96107 |
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Telomeric duplication 20q
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Orphanet_96107 |
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Mosaic trisomy 22
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Orphanet_96068 |
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Distal duplication 22q
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Orphanet_96109 |
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Distal trisomy 22q
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Orphanet_96109 |
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Telomeric duplication 22q
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Orphanet_96109 |
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Distal duplication 2p
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Orphanet_96070 |
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Distal trisomy 2p
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Orphanet_96070 |
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Telomeric duplication 2p
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Orphanet_96070 |
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Distal duplication 2q
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Orphanet_96094 |
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Distal trisomy 2q
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Orphanet_96094 |
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Telomeric duplication 2q
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Orphanet_96094 |
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Ring chromosome 3
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Orphanet_96172 |
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Ring chromosome 3 syndrome
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Orphanet_96172 |
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Distal duplication 3p
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Orphanet_96071 |
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