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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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Dup(16)(p11.2p12.2)
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Orphanet_261204 |
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Dup(16)(p13.11)
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Orphanet_261243 |
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Dup(17)(q12)
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Orphanet_261272 |
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Dup(17p)
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Orphanet_261290 |
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Dup(20p)
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Orphanet_261318 |
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Dup(X)(q27.3q28)
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Orphanet_261483 |
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Dup7q11.23D
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Orphanet_261102 |
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EDMD
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Orphanet_261 |
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FDGC
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Orphanet_26106 |
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HDGC
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Orphanet_26106 |
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Onychoosteodysplasia
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Orphanet_2614 |
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UPD(X)mat
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Orphanet_261519 |
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UPD(X)pat
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Orphanet_261524 |
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r(Y)
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Orphanet_261529 |
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Alfi syndrome
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Orphanet_261112 |
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