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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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Disorder of fructose metabolism
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Orphanet_308463 |
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Disorder of galactose metabolism
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Orphanet_308467 |
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Disorder of glycolysis
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Orphanet_308459 |
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Disorder of glyoxylate metabolism
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Orphanet_308998 |
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Intellectual disability-polydactyly-uncombable hair syndrome
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Orphanet_3082 |
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GSDIV, progressive hepatic form
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Orphanet_308621 |
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Focal acral hyperkeratosis
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Orphanet_308013 |
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Punctate palmoplantar hyperkeratosis type 3 without elastoidosis
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Orphanet_308013 |
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Pompe disease, infantile onset
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Orphanet_308552 |
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Punctate palmoplantar keratoderma type 3 without elastoidosis
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Orphanet_308013 |
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Vitamin B12-responsive methylmalonic acidemia, type cblDv2
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Orphanet_308442 |
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Vitamin B12-responsive methylmalonic aciduria, type cblDv2
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Orphanet_308442 |
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GSDIV, congenital neuromuscular form
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Orphanet_308670 |
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GSDIV, childhood neuromuscular form
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Orphanet_308698 |
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GSDIV, adult neuromuscular form
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Orphanet_308712 |
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