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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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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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FHEIG syndrome
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Orphanet_598603 |
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Distal myopathy
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Orphanet_599 |
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STXBP1-related encephalopathy
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Orphanet_599373 |
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LQT8 type 1
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Orphanet_595098 |
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LQT8 type 2
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Orphanet_595105 |
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Monocarboxylate transporter 8 deficiency
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Orphanet_59 |
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