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| created at |
2024-09-23 16:23:50 UTC |
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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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Beta-thalassemia associated with another hemoglobin anomaly
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Orphanet_231230 |
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Combined immunodeficiency with expansion of gamma delta T cells
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Orphanet_231154 |
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Joubert syndrome with oculorenal defect
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Orphanet_2318 |
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Hermansky-Pudlak syndrome with pulmonary fibrosis
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Orphanet_231500 |
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Adrenocortical carcinoma with pure aldosterone hypersecretion
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Orphanet_231625 |
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Hermansky-Pudlak syndrome without pulmonary fibrosis
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Orphanet_231512 |
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