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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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MCAD deficiency
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Orphanet_42 |
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Secondary PAP
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Orphanet_420259 |
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SCD syndrome
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Orphanet_420402 |
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Dystonia 24
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Orphanet_420485 |
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Dystonia 23
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Orphanet_420492 |
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Temple-Baraitser syndrome
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Orphanet_420561 |
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Culler-Jones syndrome
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Orphanet_420584 |
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RIDDLE syndrome
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Orphanet_420741 |
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RNF168 deficiency
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Orphanet_420741 |
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Anti-IgLON5 disease
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Orphanet_420789 |
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Anti-IgLON5 syndrome
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Orphanet_420789 |
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Cono-spondylar dysplasia
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Orphanet_420794 |
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TOR1AIP1-related LGMD
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Orphanet_424261 |
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Biliary cystadenocarcinoma
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Orphanet_424982 |
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ApoA-I deficiency
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Orphanet_425 |
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