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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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Rare disease with glaucoma as a major feature
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Orphanet_98638 |
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Malformation syndrome with hamartosis
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Orphanet_98196 |
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Rare disorder with lens opacification
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Orphanet_98640 |
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Myelodysplastic neoplasm with low blasts
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Orphanet_98826 |
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Primary dystonia with mixed phenotype
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Orphanet_98807 |
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Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia
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Orphanet_98757 |
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Rare disease with odontological manifestation
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Orphanet_98027 |
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Dysmorphologic diseases with phakomatosis
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Orphanet_98196 |
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Rare disorder with ptosis
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Orphanet_98578 |
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Rare disorder with strabismus
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Orphanet_98681 |
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Syndromic disorder with strabismus
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Orphanet_98683 |
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