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DeCS
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Descriptor English:
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Ornithine Carbamoyltransferase Deficiency Disease
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Descriptor Spanish:
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Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa
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Descriptor Portuguese:
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Doença da Deficiência de Ornitina Carbomoiltransferase
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Synonyms English:
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Ornithine Transcarbamylase Deficiency Disease
Ornithine Transcarbamylase Deficiency
OTC Deficiency
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Tree Number:
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C10.228.140.163.100.937.750
C16.320.322.828
C16.320.565.100.940.750
C16.320.565.189.937.750
C18.452.132.100.937.500
C18.452.648.100.940.500
C18.452.648.189.937.500
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Definition English:
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An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50) |
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See Related English:
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Ornithine Carbamoyltransferase
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History Note English:
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2000
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Allowable Qualifiers English:
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Record Number:
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34234
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Unique Identifier:
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D020163
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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