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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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Mucopolysaccharidosis type 10
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Orphanet_662216 |
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Heterozygous microdeletion 17p11.2p12
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Orphanet_640 |
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Acrocephalopolysyndactyly type 2
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Orphanet_65759 |
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LGMD, type 28
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Orphanet_653725 |
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Limb-girdle, type 28R
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Orphanet_653725 |
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LGMD type 2D
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Orphanet_62 |
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Tyrosinemia type 3
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Orphanet_69723 |
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Mucopolysaccharidosis type 9
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Orphanet_67041 |
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Non-specific supratentorial AE with characteristic antibodies
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Orphanet_624166 |
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Non-specific supratentorial AE without characteristic antibodies
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Orphanet_624178 |
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Breast implant-associated ALCL
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Orphanet_667662 |
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Chronic neurovisceral ASMD
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Orphanet_618891 |
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Factor V Atlanta bleeding disorder
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Orphanet_600194 |
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Thomsen and Becker disease
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Orphanet_614 |
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HA20-related monogenic Behcet-like disease
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Orphanet_674762 |
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