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OMIM ID
261600
OMIM term:
PHENYLKETONURIA; PKU
Alternative terms:
PHENYLALANINE HYDROXYLASE DEFICIENCY
PAH DEFICIENCY
OLIGOPHRENIA PHENYLPYRUVICA
FOLLING DISEASE HYPERPHENYLALANINEMIA, NON-PKU MILD, INCLUDED
HPA, NON-PKU MILD, INCLUDED
PHENYLKETONURIA, MATERNAL, INCLUDED
(∗) Location:
12q23.2
(†) Associated OMIM genes:
PAH
(‡) Associated MGI genes:
Hnf1a
Pah
hph1
Mouse
Zebrafish
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