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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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Keratosis palmoplantaris-corneal dystrophy syndrome
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Orphanet_28378 |
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Pectus excavatum-macrocephaly-dysplastic nails syndrome
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Orphanet_2835 |
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Wrinkled skin syndrome
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Orphanet_2834 |
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Short tarsus-absence of lower eyelashes syndrome
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Orphanet_2832 |
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Wrinkly skin syndrome
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Orphanet_2834 |
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Stiff skin syndrome
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Orphanet_2833 |
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Tyrosinemia due to TAT deficiency
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Orphanet_28378 |
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Tyrosinemia due to tyrosine aminotransferase deficiency
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Orphanet_28378 |
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