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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.
Ring chromosome 13
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Orphanet_96176 |
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Ring chromosome 13 syndrome
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Orphanet_96176 |
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Distal duplication 13q
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Orphanet_96105 |
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Distal trisomy 13q
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Orphanet_96105 |
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Telomeric duplication 13q
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Orphanet_96105 |
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Distal deletion 13q34
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Orphanet_96168 |
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Subtelomeric deletion 13q34
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Orphanet_96168 |
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Distal deletion 14q
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Orphanet_96150 |
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Distal monosomy 14q
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Orphanet_96150 |
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Telomeric deletion 14q
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Orphanet_96150 |
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Ring chromosome 15
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Orphanet_96177 |
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Ring chromosome 15 syndrome
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Orphanet_96177 |
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Ring chromosome 16
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Orphanet_96178 |
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Ring chromosome 16 syndrome
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Orphanet_96178 |
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Distal duplication 16p
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Orphanet_96078 |
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