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| created at |
2024-09-23 16:23:50 UTC |
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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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spEDS-B3GALT6
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Orphanet_536467 |
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B3GALT6-related spEDS
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Orphanet_536467 |
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Beta3GalT6-deficient EDS
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Orphanet_536467 |
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B3GALT6-related spondylodysplastic EDS
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Orphanet_536467 |
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B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
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Orphanet_536467 |
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Ehlers-Danlos syndrome progeroid type 2
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Orphanet_536467 |
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