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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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OCA8
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Orphanet_597733 |
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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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TRIM22-related inflammatory bowel disease
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Orphanet_597201 |
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ALPI-related inflammatory bowel disease
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Orphanet_597887 |
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KAT6B-related multiple congenital anomalies syndrome
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Orphanet_597749 |
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Central core disease
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Orphanet_597 |
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Euthyroid dysprealbuminemic hyperthyroxinemia
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Orphanet_597939 |
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Euthyroid dystransthyretinemic hyperthyroxinemia
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Orphanet_597939 |
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SETD2-related overgrowth syndrome
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Orphanet_597738 |
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Oculocutaneous albinism type 8
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Orphanet_597733 |
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