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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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Acute pure motor Guillain-Barré syndrome
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Orphanet_98918 |
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Distal hereditary motor neuropathy type 6
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Orphanet_98920 |
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Supranuclear eye movement disorder
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Orphanet_98687 |
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Diaphragmatic spinal muscular atrophy
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Orphanet_98920 |
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Genetic neurological muscular channelopathy
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Orphanet_98737 |
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X-linked Emery-Dreifuss muscular dystrophy
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Orphanet_98863 |
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Postsynaptic congenital myasthenic syndromes
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Orphanet_98913 |
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Presynaptic congenital myasthenic syndromes
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Orphanet_98914 |
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Synaptic congenital myasthenic syndromes
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Orphanet_98915 |
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Unclassified mixed myelodysplastic/myeloproliferatic syndrome
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Orphanet_98825 |
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Atypical chronic myeloid leukemia
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Orphanet_98824 |
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Idiopathic inflammatory myopathy
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Orphanet_98482 |
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Oculopharyngeal distal myopathy
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Orphanet_98897 |
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Amish nemaline myopathy
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Orphanet_98902 |
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Desmin-related myofibrillar myopathy
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Orphanet_98909 |
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