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feinilcéatónúire (Q194041)

Ó Wikidata
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
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No label defined
    Gaeilge
    feinilcéatónúire
    Níl aon chur síos ann
      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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      Lex ID Béarla
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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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      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