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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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Hair-nail ectodermal dysplasia
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Orphanet_69084 |
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Multiple epiphyseal dysplasia type 7
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Orphanet_647676 |
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Closed spinal dysraphism
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Orphanet_645202 |
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Open spinal dysraphism with a posterior meningocele
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Orphanet_645270 |
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Saccular spinal dysraphism with a stalk to the dome
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Orphanet_645319 |
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Proximal myotonic dystrophy
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Orphanet_606 |
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Tibial muscular dystrophy
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Orphanet_609 |
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Bethlem muscular dystrophy
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Orphanet_610 |
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Limb-girdle muscular dystrophy type 2D
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Orphanet_62 |
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Cone rod dystrophy-short stature syndrome
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Orphanet_653709 |
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Intellectual disability-cupped ears syndrome
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Orphanet_656135 |
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Amniotic fluid embolism
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Orphanet_617304 |
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Autoimmune limbic encephalitis
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Orphanet_623615 |
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Borna virus encephalitis
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Orphanet_637051 |
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Intravascular papillary endothelial hyperplasia
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Orphanet_673525 |
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