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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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Del(14)(q11.2)
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Orphanet_261120 |
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Del(14)(q12)
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Orphanet_261144 |
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Del(15)(q11.2)
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Orphanet_261183 |
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Del(15)(q14)
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Orphanet_261190 |
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Dup7q11.23D
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Orphanet_261102 |
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Alfi syndrome
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Orphanet_261112 |
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Monosomy 9p
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Orphanet_261112 |
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9p- syndrome
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Orphanet_261112 |
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Distal dup(7)(q11.23)
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Orphanet_261102 |
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Monosomy 14q11.2
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Orphanet_261120 |
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Monosomy 14q12
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Orphanet_261144 |
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Monosomy 15q11.2
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Orphanet_261183 |
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Monosomy 15q14
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Orphanet_261190 |
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Proximal del(16)(p11.2)
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Orphanet_261197 |
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Proximal monosomy 16p11.2
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Orphanet_261197 |
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