Feinilcéatónúire (Q194041)

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amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional Béarla
cuir in eagar
Language Label Description Also known as
Gaeilge
Feinilcéatónúire
No description defined
    Béarla
    phenylketonuria
    amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional
    • PKU
    • phenylalaninemia
    • Følling's disease
    • phenylketonurias

    Statements

    enzymopathy Béarla
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    Phenylketonuria testing.jpg
    2,823 × 1,563; 972 KB
    blood from a two‐week‐old being collected for phenylketonuria screening (Béarla)
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    PKU (Béarla)
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    PKU (Gearmáinis)
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    ΦΚΟ (Gréigis)
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    ICD-9-CM Béarla
    270.1
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    C81315
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    Phenylketonuria
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    Identifiers

    NL CR AUT ID Béarla
    fenylketonurie
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    Phenylketonurias
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    KEGG ID Béarla
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    1 reference
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    Freebase ID Béarla
    1 reference
    28 Deireadh Fómhair 2013
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    5C50.0
    Phenylketonuria
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    Mondo ID Béarla
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    Namuwiki ID Béarla
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    OMIM ID Béarla
    1 reference
    Orphanet ID Béarla
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    fenylketonuri
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    Phenylketonuria
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    UMLS CUI Béarla
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    GF WordNet Béarla
     
    cuir in eagar
    cuir in eagar
      cuir in eagar
        cuir in eagar
          cuir in eagar
            cuir in eagar
              cuir in eagar
                cuir in eagar
                  cuir in eagar