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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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Twin anemia-polycythemia sequence
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Orphanet_617294 |
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EN1-related dorsoventral syndrome
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Orphanet_611223 |
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SAMD9L-associated autoinflammatory syndrome
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Orphanet_619367 |
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SOCS1-related autoinflammatory syndrome
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Orphanet_619948 |
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HEM1 deficiency syndrome
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Orphanet_619953 |
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Pontocerebellar hypoplasia type 11
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Orphanet_611247 |
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Pontocerebellar hypoplasia type 12
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Orphanet_611256 |
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Pontocerebellar hypoplasia type 13
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Orphanet_613267 |
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Pontocerebellar hypoplasia type 14
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Orphanet_613274 |
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Niemann-Pick disease type A/B
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Orphanet_618891 |
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