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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.
FV short isoforms-related bleeding disorder
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Orphanet_599519 |
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Acute transverse myelitis with anti-MOG antibodies
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Orphanet_592873 |
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X-linked centronuclear myopathy
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Orphanet_596 |
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X-linked myotubular myopathy
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Orphanet_596 |
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Gestational trophoblastic neoplasm
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Orphanet_59305 |
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Syndrome of reduced sensitivity to thyroid hormone
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Orphanet_596426 |
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Isolated melanocytic schwannoma
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Orphanet_590539 |
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Isolated melanotic schwannoma
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Orphanet_590539 |
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Myelinoclastic diffuse sclerosis
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Orphanet_59298 |
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Factor V short isoforms-related bleeding disorder
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Orphanet_599519 |
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Epidermolysis bullosa simplex with extracutaneous involvement
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Orphanet_595351 |
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Epidermolysis bullosa simplex without extracutaneous involvement
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Orphanet_595346 |
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Fibrous dysplasia/McCune-Albright spectrum
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Orphanet_595216 |
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Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies
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Orphanet_592850 |
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Neuromyelitis optica spectrum disorder with anti-MOG antibodies
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Orphanet_592856 |
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