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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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Branched-chain 2-ketoacid dehydrogenase deficiency
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Orphanet_511 |
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Congenital optic disc excavation
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Orphanet_519333 |
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Rare corneal disorder
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Orphanet_519282 |
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Rare scleral disorder
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Orphanet_519298 |
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Rare choroidal disorder
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Orphanet_519309 |
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Rare macular disorder
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Orphanet_519313 |
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Rare retinal disorder
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Orphanet_519315 |
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Chronic lymphoproliferative disorder of NK-cells
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Orphanet_512017 |
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Chronic lymphoproliferative disorder of natural killer cells
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Orphanet_512017 |
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Rare ophthalmic disorder with cortical involvement
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Orphanet_519343 |
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Rare ophthalmic disorder with cranial nerve involvement
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Orphanet_519349 |
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Isolated chorioretinal dystrophy
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Orphanet_519300 |
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Isolated macular dystrophy
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Orphanet_519302 |
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Syndromic chorioretinal dystrophy
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Orphanet_519321 |
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Syndromic macular dystrophy
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Orphanet_519323 |
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