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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.
Isolated metopic and sagittal craniosynostosis
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Orphanet_620192 |
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Non-syndromic metopic and sagittal craniosynostosis
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Orphanet_620192 |
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Isolated bicoronal and sagittal craniosynostosis
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Orphanet_620205 |
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Non-syndromic bicoronal and sagittal craniosynostosis
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Orphanet_620205 |
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Non-syndromic metopic and sagittal suture synostosis
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Orphanet_620192 |
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Superior mesenteric artery syndrome
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Orphanet_622099 |
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Non-specific supratentorial AE with characteristic antibodies
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Orphanet_624166 |
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Non-specific supratentorial AE without characteristic antibodies
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Orphanet_624178 |
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Isolated pachycephaly
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Orphanet_620178 |
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Isolated pansynostosis
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Orphanet_620212 |
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Non-syndromic pansynostosis
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Orphanet_620212 |
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Congenital methemoglobinemia
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Orphanet_621 |
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Hereditary methemoglobinemia
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Orphanet_621 |
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Methylcobalamin deficiency
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Orphanet_622 |
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Autoimmune encephalitis
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Orphanet_622014 |
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