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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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Job syndrome
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Orphanet_2314 |
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Alpha-thalassemia-myelodysplastic syndrome
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Orphanet_231401 |
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Pharyngeal-cervical-brachial weakness
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Orphanet_231426 |
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Acute pandysautonomia
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Orphanet_231457 |
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Johanson-Blizzard syndrome
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Orphanet_2315 |
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Generalized DDEB
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Orphanet_231568 |
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Alopecia-anosmia-deafness-hypogonadism syndrome
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Orphanet_2316 |
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Johnson-McMillin syndrome
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Orphanet_2316 |
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Pure APAC
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Orphanet_231625 |
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X-linked IGHD
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Orphanet_231692 |
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MPPC syndrome
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Orphanet_231736 |
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Arima syndrome
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Orphanet_2318 |
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Cerebellooculorenal syndrome
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Orphanet_2318 |
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Dekaban-Arima syndrome
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Orphanet_2318 |
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Juberg-Hayward syndrome
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Orphanet_2319 |
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