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| created at |
2017-12-28 15:45:48 UTC |
| updated at |
2017-12-28 18:31:12 UTC |
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Sub-category as a label
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520,470 entries
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There is 0 pattern entry.
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NPHP7
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DISO:Disease or Syndrome |
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NEPHRONOPHTHISIS 7
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DISO:Disease or Syndrome |
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Nephronophthisis 7
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DISO:Disease or Syndrome |
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NEPHRONOPHTHISIS 7
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DISO:Disease or Syndrome |
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Caused by mutation in the nephrocystin 4 gene (NPHP4, 607215.0001)
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DISO:Finding |
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Long chain hydroxy acyl dehydrogenase deficiency
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DISO:Disease or Syndrome |
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PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
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DISO:Disease or Syndrome |
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GOUT, PRPS-RELATED
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DISO:Disease or Syndrome |
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Phosphoribosylpyrophosphate Synthetase Superactivity
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DISO:Disease or Syndrome |
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Gout, PRPS-Related
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DISO:Disease or Syndrome |
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PRPS1 SUPERACTIVITY
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DISO:Disease or Syndrome |
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PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
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DISO:Disease or Syndrome |
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Perdida del apetito
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DISO:Finding |
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MRI shows decreased signal intensities in the basal ganglia
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DISO:Finding |
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Obliterated tooth pulp cavities
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DISO:Finding |
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