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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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ADVIRC
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Orphanet_3086 |
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EPM1
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Orphanet_308 |
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Unverricht-Lundborg disease
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Orphanet_308 |
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Wolff-Zimmermann syndrome
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Orphanet_3080 |
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Kozlowski-Krajewska syndrome
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Orphanet_3082 |
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MCEE deficiency
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Orphanet_308425 |
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Aminoacylase deficiency
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Orphanet_308448 |
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Erythrocyte GALE-D
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Orphanet_308473 |
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Generalized GALE-D
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Orphanet_308487 |
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Edwards-Sethi syndrome
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Orphanet_3085 |
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Revesz syndrome
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Orphanet_3088 |
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Revesz-DeBuse syndrome
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Orphanet_3088 |
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GSD type 2, infantile onset
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Orphanet_308552 |
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Glycogenosis type 2, infantile onset
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Orphanet_308552 |
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GSD type 4, adult neuromuscular form
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Orphanet_308712 |
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