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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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Mitochondrial DNA-related dystonia
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Orphanet_254851 |
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Early-onset isolated dystonia
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Orphanet_256 |
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Early-onset primary dystonia
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Orphanet_256 |
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Early-onset torsion dystonia
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Orphanet_256 |
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Idiopathic torsion dystonia
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Orphanet_256 |
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Hereditary progressive dystonia with diurnal fluctuation
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Orphanet_255 |
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Congenital muscular dystrophy due to laminin alpha2 deficiency
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Orphanet_258 |
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Spastic ataxia-corneal dystrophy syndrome
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Orphanet_2572 |
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Congenital muscular dystrophy type 1A
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Orphanet_258 |
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Limb-girdle muscular dystrophy type 2Q
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Orphanet_254361 |
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Maternal disease-related embryofetopathy
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Orphanet_251535 |
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Localized junctional epidermolysis bullosa
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Orphanet_251393 |
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Benign occipital epilepsy
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Orphanet_25968 |
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Medulloblastoma with extensive nodularity
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Orphanet_251858 |
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Median cleft face syndrome
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Orphanet_250 |
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