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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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Partial trisomy of the short arm of chromosome 19
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Orphanet_447985 |
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Syndromic hereditary optic neuropathy
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Orphanet_441434 |
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Genetic primary orthostatic hypotension
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Orphanet_448426 |
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Idiopathic hypertrophic pachymeningitis
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Orphanet_449427 |
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Hereditary adult-onset painful axonal polyneuropathy
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Orphanet_447964 |
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Congenital CNVI palsy
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Orphanet_440233 |
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Disorders of pentose/polyol metabolism
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Orphanet_440701 |
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Classic stiff person syndrome
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Orphanet_443192 |
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Combined oxidative phosphorylation defect type 23
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Orphanet_444013 |
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Combined oxidative phosphorylation defect type 24
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Orphanet_444458 |
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Combined oxidative phosphorylation defect type 25
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Orphanet_447954 |
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Pulmonary alveolar proteinosis, Reunion island type
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Orphanet_440427 |
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X-linked dominant protoporphyria
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Orphanet_443197 |
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X-linked erythropoietic protoporphyria
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Orphanet_443197 |
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Progressive autosomal recessive ataxia-deafness syndrome
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Orphanet_448251 |
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