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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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Telomeric duplication 5q
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Orphanet_96097 |
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Distal deletion 6p
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Orphanet_96125 |
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Distal deletion 6p25
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Orphanet_96125 |
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Distal duplication 6q
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Orphanet_96098 |
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Distal trisomy 6q
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Orphanet_96098 |
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Telomeric duplication 6q
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Orphanet_96098 |
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Distal duplication 7p
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Orphanet_96074 |
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Distal trisomy 7p
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Orphanet_96074 |
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Telomeric duplication 7p
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Orphanet_96074 |
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Distal deletion 7p
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Orphanet_96126 |
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Distal monosomy 7p
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Orphanet_96126 |
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Telomeric deletion 7p
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Orphanet_96126 |
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Mosaic trisomy 8
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Orphanet_96061 |
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Recombinant chromosome 8 syndrome
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Orphanet_96167 |
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Duplication 8q/deletion 8p
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Orphanet_96167 |
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