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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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Male infertility due to testicular dysgenesis
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Orphanet_98313 |
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Partial autosomal duplication/triplication
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Orphanet_98132 |
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Paroxysmal kinesigenic dyskinesia
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Orphanet_98809 |
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Paroxysmal non-kinesigenic dyskinesia
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Orphanet_98810 |
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Paroxysmal exertion-induced dyskinesia
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Orphanet_98811 |
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Hereditary whispering dysphonia
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Orphanet_98805 |
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Fehr corneal dystrophy
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Orphanet_98969 |
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Anhidrotic ectodermal dysplasia with immunodeficiency
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Orphanet_98813 |
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Hypohidrotic ectodermal dysplasia with immunodeficiency
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Orphanet_98813 |
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Macular corneal dystrophy
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Orphanet_98969 |
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GTPCH1-deficient dopa-responsive dystonia
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Orphanet_98808 |
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Idiopathic torsion dystonia of mixed type
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Orphanet_98806 |
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Hereditary progressive dystonia with marked diurnal fluctuation
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Orphanet_98808 |
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Anterior corneal dystrophy
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Orphanet_98625 |
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Superficial corneal dystrophy
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Orphanet_98625 |
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