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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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Atkin-Flaitz syndrome
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Orphanet_1193 |
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Congenital atransferrinemia
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Orphanet_1195 |
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Congenital hypotransferrinemia
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Orphanet_1195 |
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Colonic atresia
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Orphanet_1198 |
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Esophageal atresia
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Orphanet_1199 |
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Oesophageal atresia
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Orphanet_1199 |
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Atelosteogenesis type 1
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Orphanet_1190 |
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LGMD type 2E
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Orphanet_119 |
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Van den Berghe-Dequecker syndrome
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Orphanet_1122 |
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Oculomotor apraxia, Cogan type
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Orphanet_1125 |
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Salt-wasting tubulopathy, Henle's loop type
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Orphanet_112 |
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Atelosteogenesis type I
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Orphanet_1190 |
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Beta-sarcoglycan-related LGMD R4
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Orphanet_119 |
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Mandibulofacial dysostosis, Toriello type
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Orphanet_1131 |
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Isolated nose agenesis
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Orphanet_1134 |
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