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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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Coloboma of macula
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Orphanet_98945 |
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Anterior basement membrane dystrophy
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Orphanet_98956 |
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Epithelial basement membrane dystrophy
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Orphanet_98956 |
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Anterior limiting membrane dystrophy type 1
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Orphanet_98961 |
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Anterior limiting membrane dystrophy type 2
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Orphanet_98960 |
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Anterior limiting membrane dystrophy type I
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Orphanet_98961 |
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Anterior limiting membrane dystrophy type II
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Orphanet_98960 |
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Acute pure motor GBS
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Orphanet_98918 |
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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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Diaphragmatic spinal muscular atrophy
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Orphanet_98920 |
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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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Amish nemaline myopathy
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Orphanet_98902 |
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