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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.
Primary dystonia, DYT4 type
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Orphanet_98805 |
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Primary dystonia, DYT6 type
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Orphanet_98806 |
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Severe dystrophinopathy, Duchenne type
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Orphanet_98896 |
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Autosomal dominant Emery-Dreifuss muscular dystrophy
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Orphanet_98853 |
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Autosomal recessive Emery-Dreifuss muscular dystrophy
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Orphanet_98855 |
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Complex X-linked HSP
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Orphanet_98888 |
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Complicated X-linked HSP
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Orphanet_98888 |
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CDA type I
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Orphanet_98869 |
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CDA type II
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Orphanet_98873 |
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CDA type III
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Orphanet_98870 |
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Congenital factor IX deficiency
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Orphanet_98879 |
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Primary acquired PRCA
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Orphanet_98872 |
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Complex X-linked SPG
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Orphanet_98888 |
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Complicated X-linked SPG
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Orphanet_98888 |
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Autosomal dominant Segawa syndrome
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Orphanet_98808 |
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