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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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CAGSSS
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Orphanet_436174 |
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CHAI
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Orphanet_436159 |
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Hypophosphatasia
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Orphanet_436 |
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Phosphoethanolaminuria
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Orphanet_436 |
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Rathbun disease
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Orphanet_436 |
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HIDEA syndrome
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Orphanet_436141 |
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NLRC4-related MAS
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Orphanet_436166 |
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THBD-related coagulopathy
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Orphanet_436169 |
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Thrombomodulin-related coagulopathy
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Orphanet_436169 |
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CID-MIA/early-onset IBD
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Orphanet_436252 |
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Contractures-developmental delay-Pierre Robin syndrome
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Orphanet_436003 |
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NLRC4-related macrophage activation syndrome
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Orphanet_436166 |
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Retinal dystrophy-juvenile cataract-short stature syndrome
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Orphanet_436245 |
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THBD-related bleeding disorder
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Orphanet_436169 |
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Thrombomodulin-related bleeding disorder
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Orphanet_436169 |
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