C0751434 - A genetic disorder caused by a mutation in the gene that encodes the enzyme phenylalanine hydroxylase, resulting in a severe form of phenylketonuria. 2/10
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Terms, descriptions
CUI    C0751434
RussianMDRRUS 10034875 L15775306preferred S19090775 Y Фенилпируватная олигофрения
NCI Thesaurus A24379769 AT205722488 A genetic disorder caused by a mutation in the gene that encodes the enzyme phenylalanine hydroxylase, resulting in a severe form of phenylketonuria.