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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 duplication 8q
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Orphanet_96100 |
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Distal trisomy 8q
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Orphanet_96100 |
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Telomeric duplication 8q
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Orphanet_96100 |
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Ring chromosome 9
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Orphanet_96173 |
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Ring chromosome 9 syndrome
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Orphanet_96173 |
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Distal duplication 9q
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Orphanet_96101 |
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Distal trisomy 9q
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Orphanet_96101 |
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Telomeric duplication 9q
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Orphanet_96101 |
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Non-distal duplication 9q
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Orphanet_96112 |
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Non-distal trisomy 9q
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Orphanet_96112 |
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Non-telomeric trisomy 9q
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Orphanet_96112 |
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Isolated vitamin E deficiency
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Orphanet_96 |
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Acromesomelic dysplasia, Hunter-Thompson type
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Orphanet_968 |
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San Luis Valley syndrome
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Orphanet_96167 |
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Corticotroph pituitary adenoma
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Orphanet_96253 |
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