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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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Congenital tracheal stenosis
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Orphanet_141127 |
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Inherited cancer-predisposing syndrome
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Orphanet_140162 |
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Charlie M syndrome
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Orphanet_1406 |
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Uncombable hair syndrome
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Orphanet_1410 |
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Tarsal-carpal coalition syndrome
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Orphanet_1412 |
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MED12-related Hardikar syndrome
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Orphanet_1415 |
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Hydrops-ectopic calcification-motheaten syndrome
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Orphanet_1426 |
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Choroidal atrophy-alopecia syndrome
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Orphanet_1433 |
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Xq21 microdeletion syndrome
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Orphanet_1435 |
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Mid-aortic dysplastic syndrome
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Orphanet_1456 |
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Middle aortic syndrome
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Orphanet_1456 |
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Renal coloboma syndrome
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Orphanet_1475 |
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Da Silva syndrome
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Orphanet_1495 |
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Multiple contracture syndrome, Finnish type
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Orphanet_1486 |
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Isolated congenital syngnathia
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Orphanet_141214 |
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