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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 trisomy 16p
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Orphanet_96078 |
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Telomeric duplication 16p
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Orphanet_96078 |
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Distal duplication 16q
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Orphanet_96106 |
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Distal trisomy 16q
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Orphanet_96106 |
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Telomeric duplication 16q
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Orphanet_96106 |
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Distal deletion 19p
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Orphanet_96129 |
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Telomeric deletion 19p
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Orphanet_96129 |
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Distal deletion 19p13.3
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Orphanet_96129 |
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Distal monosomy 19p13.3
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Orphanet_96129 |
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Distal duplication 1p36
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Orphanet_96069 |
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Distal trisomy 1p36
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Orphanet_96069 |
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Telomeric duplication 1p36
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Orphanet_96069 |
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Ring chromosome 2
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Orphanet_96171 |
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Ring chromosome 2 syndrome
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Orphanet_96171 |
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Distal duplication 20q
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Orphanet_96107 |
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