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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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Menke-Hennekam syndrome
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Orphanet_592574 |
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Schilder disease
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Orphanet_59298 |
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Myofibrillar myopathy
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Orphanet_593 |
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NISCH syndrome
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Orphanet_59303 |
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Centronuclear myopathy
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Orphanet_595 |
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Atypical LQT8
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Orphanet_595109 |
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FD/MAS spectrum
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Orphanet_595216 |
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FD/MAS syndrome
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Orphanet_595216 |
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Localized DEB
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Orphanet_595356 |
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VEXAS syndrome
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Orphanet_596753 |
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TRIM22-related IBD
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Orphanet_597201 |
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Luscan-Lumish syndrome
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Orphanet_597738 |
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KAT6B-related disorder
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Orphanet_597749 |
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Multiminicore disease
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Orphanet_598 |
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Multiminicore myopathy
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Orphanet_598 |
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