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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.
Ring 15
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Orphanet_96177 |
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Ring 16
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Orphanet_96178 |
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Maternal UPD(20)
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Orphanet_96186 |
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Paternal UPD(20)
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Orphanet_96194 |
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Cushing disease
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Orphanet_96253 |
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Somatotropic adenoma
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Orphanet_96256 |
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48,XXXY syndrome
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Orphanet_96263 |
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49,XXXXY syndrome
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Orphanet_96264 |
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Isochromosome Y
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Orphanet_96325 |
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Anorectal malformation
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Orphanet_96346 |
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Acromesomelic dwarfism
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Orphanet_968 |
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Acromicric dysplasia
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Orphanet_969 |
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Mosaic trisomy 10
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Orphanet_96063 |
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Distal duplication 10q
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Orphanet_96102 |
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Distal trisomy 10q
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Orphanet_96102 |
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