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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.
GSD type II, late-onset
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Orphanet_420429 |
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Glycogenosis type II, late-onset
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Orphanet_420429 |
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Mucolipidosis type III alpha/beta
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Orphanet_423461 |
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Mucolipidosis type III gamma
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Orphanet_423470 |
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KWWH type IV
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Orphanet_420686 |
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Medium chain acyl-CoA dehydrogenase deficiency
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Orphanet_42 |
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Medium chain acyl-coenzyme A dehydrogenase deficiency
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Orphanet_42 |
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ML 3 alpha/beta
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Orphanet_423461 |
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ML III alpha/beta
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Orphanet_423461 |
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Secondary pulmonary alveolar proteinosis
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Orphanet_420259 |
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Hyperthermia of anesthesia
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Orphanet_423 |
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Idiopathic/heritable pulmonary arterial hypertension
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Orphanet_422 |
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Hereditary gastric cancer
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Orphanet_423776 |
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Inherited digestive cancer-predisposing syndrome
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Orphanet_425003 |
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Rare gastric carcinoma
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Orphanet_423771 |
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