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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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Decreased CSF pyridoxal 5-prime-phosphate (PLP)
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DISO:Finding |
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Mandibular and submandibular pain, episodic, triggered by eating and yawning
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DISO:Finding |
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Rhizomelic arm shortening
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DISO:Finding |
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Rhizomelic arm shortening
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DISO:Finding |
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MACULAR DEGENERATION, AGE-RELATED, 9
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DISO:Disease or Syndrome |
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ARMD9
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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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Macular Degeneration, Age-Related, 9
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DISO:Disease or Syndrome |
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Macular Degeneration, Age-Related, 9
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DISO:Disease or Syndrome |
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SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY
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DISO:Disease or Syndrome |
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SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION
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DISO:Disease or Syndrome |
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Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
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DISO:Disease or Syndrome |
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Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation Due To Nhej1 Deficiency
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DISO:Disease or Syndrome |
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NHEJ1 Syndrome
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DISO:Disease or Syndrome |
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NHEJ1 SYNDROME
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DISO:Disease or Syndrome |
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