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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:increased circulating phenylalanine level
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Accession:MP:0030670 term browser browse the term
Definition:increase in the amount per unit of blood of phenylalanine (2-amino-3-phenylpropanoic acid), an essential alpha-amino acid that is the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin
Synonyms:exact_synonym: hyperphenylalaninaemia;   hyperphenylalaninemia;   phenylalaninaemia;   phenylalaninemia
 narrow_synonym: increased plasma phenylalanine level;   increased serum phenylalanine level


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increased circulating phenylalanine level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8a2 ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 IAGP MGI PMID:4388883 NCBI chr14:59,884,980...60,324,363
Ensembl chr14:59,875,989...60,434,628 		JBrowse link
G Hnf1a HNF1 homeobox A IAGP MGI PMID:8598044 NCBI chr 5:115,087,039...115,109,121
Ensembl chr 5:115,087,039...115,109,153 		JBrowse link
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 17088
    homeostasis/metabolism phenotype 7927
      abnormal homeostasis 7061
        abnormal amino acid level 629
          abnormal circulating amino acid level 524
            increased circulating amino acid level 334
              increased circulating phenylalanine level 6
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