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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.
Renal dysplasia, unilateral
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Orphanet_93172 |
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Atypical hemolytic uremic syndrome with anti-factor H antibodies
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Orphanet_93581 |
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Renal or urinary tract malformation
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Orphanet_93545 |
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Posterior urethral valve
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Orphanet_93110 |
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Middle interhemispheric variant of holoprosencephaly
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Orphanet_93926 |
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Midline interhemispheric variant of holoprosencephaly
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Orphanet_93926 |
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Atypical HUS with anti-factor H antibodies
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Orphanet_93581 |
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Primary osteodysplasia with decreased bone density
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Orphanet_93446 |
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Primary osteodysplasia with defective bone mineralization
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Orphanet_93447 |
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Primary osteodysplasia with increased bone density
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Orphanet_93444 |
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Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type
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Orphanet_93360 |
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Spondyloepimetaphyseal dysplasia with joint laxity type 2
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Orphanet_93360 |
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Postaxial syndactyly with metacarpal synostosis
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Orphanet_93406 |
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Primary osteodysplasia with multiple joint dislocations
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Orphanet_93441 |
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Chromosomal disease with overgrowth
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Orphanet_93461 |
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