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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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Glycogen storage disease type 4, non progressive hepatic form
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Orphanet_308638 |
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Glycogen storage disease type 4, progressive hepatic form
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Orphanet_308621 |
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Glycogen storage disease type II, infantile onset
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Orphanet_308552 |
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Glycogen storage disease type IV, adult neuromuscular form
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Orphanet_308712 |
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Glycogen storage disease type IV, childhood neuromuscular form
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Orphanet_308698 |
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Glycogen storage disease type IV, congenital neuromuscular form
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Orphanet_308670 |
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Glycogen storage disease type IV, non progressive hepatic form
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Orphanet_308638 |
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Glycogen storage disease type IV, progressive hepatic form
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Orphanet_308621 |
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PPKP3 without elastoidosis
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Orphanet_308013 |
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PPPK3 without elastoidosis
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Orphanet_308013 |
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Progressive myoclonic epilepsy type 1
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Orphanet_308 |
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Progressive myoclonus epilepsy type 1
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Orphanet_308 |
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Erythrocyte galactose epimerase deficiency
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Orphanet_308473 |
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Generalized galactose epimerase deficiency
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Orphanet_308487 |
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GBE deficiency, fatal perinatal neuromuscular form
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Orphanet_308655 |
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