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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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DADA2
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Orphanet_404553 |
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DITRA
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Orphanet_404546 |
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FH-II
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Orphanet_404 |
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HVDAS
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Orphanet_404448 |
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NGLY1-CDDG
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Orphanet_404454 |
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SCAR15
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Orphanet_404499 |
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SCAR23
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Orphanet_404493 |
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SMARD2
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Orphanet_404521 |
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Tatton-Brown-Rahman syndrome
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Orphanet_404443 |
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ADNP syndrome
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Orphanet_404448 |
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NGLY1 deficiency
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Orphanet_404454 |
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CTNNB1 syndrome
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Orphanet_404473 |
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GLOW syndrome
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Orphanet_404476 |
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Salih ataxia
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Orphanet_404499 |
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Chondromyxoid fibroma
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Orphanet_404507 |
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