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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.
Fibroneural non-saccular LDM
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Orphanet_645310 |
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Fragile X-associated POF
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Orphanet_642691 |
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Fragile X-associated POI
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Orphanet_642691 |
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Intermediate collagen VI-related muscular dystrophy
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Orphanet_646113 |
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Syndrome de Volkmann congénital
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Orphanet_641829 |
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Isolated micronodular adrenocortical disease
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Orphanet_647782 |
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Hereditary sensory and autonomic neuropathy type 4
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Orphanet_642 |
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Hereditary sensory and autonomic neuropathy type 5
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Orphanet_64752 |
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Hereditary sensory and autonomic neuropathy type IV
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Orphanet_642 |
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Hereditary sensory and autonomic neuropathy type V
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Orphanet_64752 |
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Primary bone and joint tuberculosis
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Orphanet_645822 |
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Hereditary motor and sensory neuropathy type 2
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Orphanet_64746 |
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Hereditary motor and sensory neuropathy type 3
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Orphanet_64748 |
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Hereditary motor and sensory neuropathy type 5
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Orphanet_64751 |
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Hereditary motor and sensory neuropathy type III
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Orphanet_64748 |
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