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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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Takayasu arteritis
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Orphanet_3287 |
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Hemophilia C
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Orphanet_329 |
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PTA deficiency
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Orphanet_329 |
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Rosenthal syndrome
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Orphanet_329 |
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Teebi-Shaltout syndrome
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Orphanet_3291 |
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PACS1-neurodevelopmental disorder
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Orphanet_329224 |
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PACS1-related syndrome
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Orphanet_329224 |
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Schuurs-Hoeijmakers syndrome
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Orphanet_329224 |
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PLA2G6-associated neurodegeneration
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Orphanet_329303 |
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Hapnes-Boman-Skeie syndrome
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Orphanet_3294 |
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Dystonia 25
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Orphanet_329466 |
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Lipoprotein glomerulopathy
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Orphanet_329481 |
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TRAPS syndrome
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Orphanet_32960 |
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Trisomy 5p13
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Orphanet_329802 |
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Androgenetic/biparental mosaicism
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Orphanet_329813 |
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