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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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Chudley-Rozdilsky syndrome
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Orphanet_3068 |
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Primary dystonia, DYT21 type
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Orphanet_306734 |
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Epilepsy and/or ataxia with myoclonus as a major feature
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Orphanet_306756 |
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Hypercalcemic tumoral calcinosis
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Orphanet_306661 |
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Porencephaly-microcephaly-bilateral congenital cataract syndrome
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Orphanet_306547 |
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Hereditary sodium channelopathy-related small fibers neuropathy
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Orphanet_306577 |
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Isolated hereditary congenital facial paralysis
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Orphanet_306527 |
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X-linked intellectual disability, Snyder type
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Orphanet_3063 |
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Subcutaneous spherulocystic disease
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Orphanet_306553 |
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Postinfectious autoimmune disease with chorea
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Orphanet_306727 |
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Rare tremor disorder
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Orphanet_306712 |
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Miscellaneous movement disorder due to neurodegenerative disease
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Orphanet_306695 |
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Delayed encephalopathy due to CO poisoning
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Orphanet_306686 |
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Delayed encephalopathy due to carbon monoxide poisoning
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Orphanet_306686 |
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Rare intoxication due to medical products
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Orphanet_306640 |
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