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Disturbances, Learning
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DISO:Mental or Behavioral Dysfunction |
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Learning Disturbances
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DISO:Mental or Behavioral Dysfunction |
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Learning Disturbance
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DISO:Mental or Behavioral Dysfunction |
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Jt contracture-ankle
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DISO:Acquired Abnormality |
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Contracture of joint, ankle and foot
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DISO:Acquired Abnormality |
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ileum bstruction
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DISO:Acquired Abnormality |
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Increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6MP), 6-thioguanine (6TG), and azathioprine (AZA)
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DISO:Finding |
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5-10% of patients have a first degree relative with IBD (Crohn or ulcerative colitis)
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DISO:Finding |
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Variable age at onset (range infancy to 30 years)
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DISO:Finding |
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(4) Thiamine-responsive form
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DISO:Finding |
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Decreased activity of thiopurine S-methyltransferase
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DISO:Finding |
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Caused by mutation in the 3-prime repair exonuclease 1 gene (TREX1, 606609.0001)
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DISO:Finding |
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Benign tumors of the eye, heart, and lungs
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DISO:Finding |
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