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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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DYT29
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Orphanet_508093 |
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Del(8)(q24.3)
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Orphanet_508488 |
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Leprechaunism
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Orphanet_508 |
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OFD18
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Orphanet_508501 |
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Donohue syndrome
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Orphanet_508 |
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Singh-Williams-McAlister syndrome
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Orphanet_50809 |
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Talo-patello-scaphoid osteolysis
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Orphanet_50809 |
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Dystonia 29
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Orphanet_508093 |
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MEPAN syndrome
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Orphanet_508093 |
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Basel-Vanagaite-Sirota syndrome
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Orphanet_50810 |
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Microlissencephaly-micromelia syndrome
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Orphanet_50810 |
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Rajab-Spranger syndrome
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Orphanet_50811 |
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Ahn-Lerman-Sagie syndrome
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Orphanet_50812 |
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Boyadjiev-Jabs syndrome
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Orphanet_50814 |
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Craniolenticulosutural dysplasia
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Orphanet_50814 |
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