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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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Monosomy 2q32
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Orphanet_251019 |
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Monosomy 2q32q33
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Orphanet_251019 |
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Monosomy 2q33.1
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Orphanet_251028 |
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Trisomy 3q29
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Orphanet_251038 |
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Ring 5
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Orphanet_251043 |
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Monosomy 6p22
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Orphanet_251046 |
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Monosomy 6q25
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Orphanet_251056 |
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Monosomy 7q31
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Orphanet_251061 |
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Monosomy 8p11.2
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Orphanet_251066 |
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Monosomy 8p23.1
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Orphanet_251071 |
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Trisomy 8p23.1
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Orphanet_251076 |
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Ring chromosome 5
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Orphanet_251043 |
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Ring chromosome 5 syndrome
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Orphanet_251043 |
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Paternal uniparental disomy of chromosome 1
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Orphanet_251004 |
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Maternal uniparental disomy of chromosome 1
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Orphanet_251009 |
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