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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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CBS-deficient HCU
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Orphanet_394 |
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Cystathionine beta-synthase deficiency
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Orphanet_394 |
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Multiple acyl-CoA dehydrogenase deficiency, mild type
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Orphanet_394532 |
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Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
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Orphanet_394529 |
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Cystathionine beta-synthase-deficient homocystinuria
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Orphanet_394 |
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MAD deficiency, mild type
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Orphanet_394532 |
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MADD, severe neonatal type
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Orphanet_394529 |
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MAD deficiency, severe neonatal type
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Orphanet_394529 |
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Homocystinuria due to CBS deficiency
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Orphanet_394 |
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Homocystinuria due to cystathionine beta-synthase deficiency
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Orphanet_394 |
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MADD, mild type
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Orphanet_394532 |
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Glutaric aciduria type 2, mild type
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Orphanet_394532 |
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Glutaric aciduria type 2, severe neonatal type
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Orphanet_394529 |
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