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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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Hyperphenylalaninemia due to dehydratase deficiency
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Orphanet_1578 |
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Genetic biliary tract disease
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Orphanet_156607 |
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Genetic urogenital tract malformation
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Orphanet_156622 |
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Carnitine palmitoyl transferase 1A deficiency
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Orphanet_156 |
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Carnitine palmitoyl transferase IA deficiency
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Orphanet_156 |
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Craniosynostosis, Philadelphia type
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Orphanet_1527 |
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Craniosynostosis, Boston type
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Orphanet_1541 |
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Craniosynostosis, Warman type
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Orphanet_1541 |
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SEMD, matrilin-3 type
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Orphanet_156728 |
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Syndactyly, Malik-Percin type
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Orphanet_157801 |
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Rare genetic urogenital disease
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Orphanet_156619 |
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Predominantly large-vessel vasculitis
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Orphanet_156140 |
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Predominantly medium-vessel vasculitis
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Orphanet_156143 |
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Predominantly small-vessel vasculitis
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Orphanet_156146 |
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Rare syndrome with cardiac malformations
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Orphanet_156532 |
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