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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.

Term:abnormal circulating phenylalanine level
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Accession:MP:0030669 term browser browse the term
Definition:aberrant concentration in the blood of phenylalanine (2-amino-3-phenylpropanoic acid), an aromatic amino acid that is alanine in which one of the methyl hydrogens is substituted by a phenyl group; it is an essential alpha-amino acid and the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin
Synonyms:narrow_synonym: abnormal plasma phenylalanine level;   abnormal serum phenylalanine level



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decreased circulating phenylalanine level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oat ornithine aminotransferase IAGP MGI PMID:7550347 NCBI chr 7:132,159,204...132,178,127
Ensembl chr 7:132,159,207...132,178,127
JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase IAGP MGI PMID:16135092 NCBI chr 9:50,432,917...50,440,017
Ensembl chr 9:50,432,917...50,440,024
JBrowse link
increased circulating phenylalanine level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufs4 NADH:ubiquinone oxidoreductase core subunit S4 IAGP MGI PMID:22535952 NCBI chr13:114,424,331...114,524,630
Ensembl chr13:114,424,331...114,524,794
JBrowse link
G Pah phenylalanine hydroxylase IAGP MGI PMID:8375656 PMID:33790381 NCBI chr10:87,357,657...87,419,999
Ensembl chr10:87,357,657...87,419,998
JBrowse link
G Pcbd1 pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1 IAGP MGI PMID:12011081 NCBI chr10:60,925,110...60,930,108
Ensembl chr10:60,925,110...60,930,103
JBrowse link
G Spr sepiapterin reductase IAGP MGI PMID:16532389 NCBI chr 6:85,110,662...85,114,746
Ensembl chr 6:85,107,158...85,114,748
JBrowse link

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  mammalian phenotype 15965
    homeostasis/metabolism phenotype 6961
      abnormal homeostasis 6138
        abnormal amino acid level 479
          abnormal circulating amino acid level 389
            abnormal circulating phenylalanine level 6
              decreased circulating phenylalanine level 2
              increased circulating phenylalanine level 4
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