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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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Bird-headed dwarfism, Montreal type
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Orphanet_2617 |
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Microcephalic primordial dwarfism, Montreal type
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Orphanet_2617 |
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Partial deletion of chromosome 1
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Orphanet_261766 |
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Partial monosomy of chromosome 1
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Orphanet_261766 |
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Partial deletion of chromosome 2
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Orphanet_261771 |
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Partial monosomy of chromosome 2
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Orphanet_261771 |
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Partial deletion of chromosome 3
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Orphanet_261776 |
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Partial monosomy of chromosome 3
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Orphanet_261776 |
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Partial deletion of chromosome 4
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Orphanet_261781 |
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Partial monosomy of chromosome 4
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Orphanet_261781 |
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Partial deletion of chromosome 5
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Orphanet_261786 |
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Partial monosomy of chromosome 5
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Orphanet_261786 |
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Partial deletion of chromosome 6
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Orphanet_261791 |
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Partial monosomy of chromosome 6
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Orphanet_261791 |
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Partial deletion of chromosome 7
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Orphanet_261796 |
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