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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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NFJ syndrome
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Orphanet_69087 |
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Naegeli syndrome
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Orphanet_69087 |
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Naegeli-Franceschetti-Jadassohn syndrome
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Orphanet_69087 |
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PAPA syndrome
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Orphanet_69126 |
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ABCB4-related cholelithiasis
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Orphanet_69663 |
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Pregnancy-related cholestasis
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Orphanet_69665 |
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Bosley-Salih-Alorainy syndrome
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Orphanet_69737 |
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Follicular dyskeratoma
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Orphanet_69745 |
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Warty dyskeratoma
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Orphanet_69745 |
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Pearson syndrome
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Orphanet_699 |
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Neurofibromatosis type 1
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Orphanet_636 |
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Ataxia-telangiectasia, variant 1
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Orphanet_647 |
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Methylenetetrahydrofolate dehydrogenase 1 deficiency
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Orphanet_658813 |
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Neurofibromatosis type 1-Noonan syndrome
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Orphanet_638 |
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Mosaic neurofibromatosis 1-like syndrome
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Orphanet_634511 |
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