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Disease name
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고페닐알라닌혈증
Hyperphenylalaninemia
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Marker gene
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Gene symbol
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Chromosome location
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Protein name
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GCH1
|
14 q22.2 |
GTP cyclohydrolase 1 |
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PCBD1
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10q22 |
Pterin-4-alpha-carbinolamine dehydratase |
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PTS
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11q23.1 |
Pterin-4-alpha-carbinolamine dehydratase |
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QDPR
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4p15.32 |
Dihydropteridine reductase |
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Inheritance
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상염색체 열성 |
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Age of onset
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신생아기, 영아기 |
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ICD 10 code
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E70.1 |
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Synonym
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Hyperphenylalaninemia due to BH4 deficiency |
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Hyperphenylalaninemia due to tetrahydrobiopterin deficiency |
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Nonphenylketonuric hyperphenylalaninemia |
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Summary
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Under development. |
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