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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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aHUS with anti-factor H antibodies
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Orphanet_93581 |
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Kidney dysplasia, bilateral
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Orphanet_93173 |
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Renal dysplasia, bilateral
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Orphanet_93173 |
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Cloverleaf skull-micromelic bone dysplasia syndrome
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Orphanet_93274 |
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Autosomal dominant brachyolmia
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Orphanet_93304 |
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Isolated radial club hand
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Orphanet_93321 |
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Isolated ulnar clubhand
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Orphanet_93320 |
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Type 2 collagen-related bone disorder
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Orphanet_93421 |
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Type 11 collagen-related bone disorder
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Orphanet_93422 |
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Spondyloepimetaphyseal dysplasia congenita, Strudwick type
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Orphanet_93346 |
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Cloverleaf skull-multiple congenital anomalies syndrome
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Orphanet_93267 |
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Rare developmental defect during embryogenesis
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Orphanet_93890 |
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Isolated fibular deficiency
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Orphanet_93323 |
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Congenital ADAMTS-13 deficiency
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Orphanet_93583 |
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D-glycerate dehydrogenase deficiency
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Orphanet_93599 |
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