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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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Hereditary sensory and autonomic neuropathy type 4
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Orphanet_642 |
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Hereditary sensory and autonomic neuropathy type IV
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Orphanet_642 |
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PUM1-related cerebellar ataxia
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Orphanet_642747 |
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Autosomal recessive ataxia due to PEX16 deficiency
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Orphanet_642954 |
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Autosomal recessive ataxia due to PEX2 deficiency
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Orphanet_642965 |
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Adult-onset spinocerebellar ataxia type 47
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Orphanet_642747 |
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H1-4-related neurodevelopmental disorder
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Orphanet_642763 |
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Mild peroxisomal disorder due to PEX16 deficiency
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Orphanet_642954 |
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Mild peroxisomal disorder due to PEX2 deficiency
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Orphanet_642965 |
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Childhood absence epilepsy
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Orphanet_64280 |
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Premature ovarian failure associated with fragile X premutation
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Orphanet_642691 |
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Fragile X-associated premature ovarian failure
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Orphanet_642691 |
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Fragile X-associated primary ovarian insufficiency
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Orphanet_642691 |
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CHD8 overgrowth syndrome
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Orphanet_642675 |
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CS due to cortisol-producing adrenocortical adenoma
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Orphanet_642788 |
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