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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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Erythrocyte GALE deficiency
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Orphanet_308473 |
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Erythrocyte UDP-galactose-4-epimerase deficiency
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Orphanet_308473 |
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Generalized GALE deficiency
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Orphanet_308487 |
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Generalized UDP-galactose-4-epimerase deficiency
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Orphanet_308487 |
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Glycerol kinase deficiency
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Orphanet_308993 |
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Erythrocyte epimerase deficiency galactosemia
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Orphanet_308473 |
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Generalized epimerase deficiency galactosemia
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Orphanet_308487 |
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Alpha-1,4-glucosidase acid deficiency, infantile onset
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Orphanet_308552 |
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Erythrocyte uridine diphosphate galactose-4-epimerase deficiency
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Orphanet_308473 |
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Generalized uridine diphosphate galactose-4-epimerase deficiency
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Orphanet_308487 |
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Glycogen storage disease due to glycogen synthase deficiency
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Orphanet_308520 |
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Glycogen storage disease type 2, infantile onset
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Orphanet_308552 |
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Glycogen storage disease type 4, adult neuromuscular form
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Orphanet_308712 |
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Glycogen storage disease type 4, childhood neuromuscular form
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Orphanet_308698 |
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Glycogen storage disease type 4, congenital neuromuscular form
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Orphanet_308670 |
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