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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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Classic Pfeiffer syndrome
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Orphanet_93258 |
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Duane-radial ray syndrome
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Orphanet_93293 |
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Hamel cerebro-palato-cardiac syndrome
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Orphanet_93946 |
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Blepharospasm-oromandibular dystonia syndrome
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Orphanet_93964 |
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Short rib-polydactyly syndrome type 1
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Orphanet_93270 |
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Short rib-polydactyly syndrome type 2
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Orphanet_93269 |
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Short rib-polydactyly syndrome type 3
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Orphanet_93271 |
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Short rib-polydactyly syndrome type 4
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Orphanet_93268 |
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Short rib-polydactyly syndrome, Beemer-Langer type
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Orphanet_93268 |
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Short rib-polydactyly syndrome, Majewski type
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Orphanet_93269 |
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Short rib-polydactyly syndrome, Saldino-Noonan type
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Orphanet_93270 |
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Short rib-polydactyly syndrome, Verma-Naumoff type
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Orphanet_93271 |
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Syndrome with synostosis or other joint formation defect
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Orphanet_93459 |
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Spondyloepiphyseal dysplasia tarda
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Orphanet_93284 |
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Congenital thrombotic thrombocytopenic purpura
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Orphanet_93583 |
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