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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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CIPA
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Orphanet_642 |
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EXOC6B-SEMD-JL
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Orphanet_642085 |
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FXPOI
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Orphanet_642691 |
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HSAN4
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Orphanet_642 |
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PPVS
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Orphanet_642071 |
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Pyknolepsy
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Orphanet_64280 |
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SEMD-JL1
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Orphanet_642099 |
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SEMD-JL3
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Orphanet_642085 |
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SEMDJL1
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Orphanet_642099 |
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SEMDJL3
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Orphanet_642085 |
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H1-4-related neurodevelopmental disorder
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Orphanet_642763 |
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Chromodomain helicase DNA binding protein 8 overgrowth syndrome
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Orphanet_642675 |
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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 IV
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Orphanet_642 |
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PUM1-related cerebellar ataxia
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Orphanet_642747 |
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