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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(1)(q41q42)
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Orphanet_250999 |
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Del(19)(p13.12)
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Orphanet_254346 |
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Del(2)(q31.1)
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Orphanet_251014 |
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Del(2)(q32)
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Orphanet_251019 |
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Del(2)(q32q33)
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Orphanet_251019 |
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Del(2)(q33.1)
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Orphanet_251028 |
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Del(6)(p22)
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Orphanet_251046 |
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Del(6)(q25)
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Orphanet_251056 |
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Del(7)(q31)
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Orphanet_251061 |
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Del(8)(p11.2)
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Orphanet_251066 |
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Del(8)(p23.1)
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Orphanet_251071 |
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Dup(1)(q21.1)
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Orphanet_250994 |
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Dup(8)(p23.1p23.1)
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Orphanet_251076 |
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EBS-MD
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Orphanet_257 |
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EOTD
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Orphanet_256 |
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