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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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Collagen VI-related congenital muscular dystrophy
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Orphanet_646098 |
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Terminal extramedullary conus spinal cord lipoma
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Orphanet_645288 |
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Transitional extramedullary conus spinal cord lipoma
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Orphanet_645291 |
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Posterior extramedullary conus spinal cord lipoma
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Orphanet_645294 |
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Retained medullary cord
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Orphanet_645334 |
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Dysraphic spinal cord lipoma
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Orphanet_645273 |
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Dorsal spinal cord lipoma
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Orphanet_645362 |
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Conus spinal cord lipoma
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Orphanet_645367 |
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ERF-related syndromic craniosynostosis
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Orphanet_647681 |
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Autosomal recessive demyelinating Charcot-Marie-Tooth
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Orphanet_64749 |
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Dermatomyositis sine dermatitis
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Orphanet_645626 |
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IgG4-related thyroid disease
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Orphanet_64744 |
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X-linked Charcot-Marie-Tooth disease
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Orphanet_64747 |
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H1-4-related neurodevelopmental disorder
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Orphanet_642763 |
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DHX30-related neurodevelopmental disorder
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Orphanet_647788 |
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