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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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FraX syndrome
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Orphanet_908 |
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Martin-Bell syndrome
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Orphanet_908 |
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Cerebrotendinous xanthomatosis
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Orphanet_909 |
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Primary lipodystrophy
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Orphanet_90970 |
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OPD syndrome 1
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Orphanet_90650 |
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OPD syndrome 2
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Orphanet_90652 |
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Classic 21-OHD CAH
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Orphanet_90794 |
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Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type
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Orphanet_90118 |
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Complications after HSCT
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Orphanet_90053 |
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Shiga-like toxin-associated HUS
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Orphanet_90038 |
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Jervell and Lange-Nielsen syndrome
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Orphanet_90647 |
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Hereditary von Willebrand disease
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Orphanet_903 |
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Lipodystrophia centrifugalis abdominalis infantilis
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Orphanet_90156 |
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AR-CMT2 with acrodystrophy
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Orphanet_90119 |
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HMSN with acrodystrophy
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Orphanet_90119 |
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