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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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    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

      fo-aicme de
      enzymopathy Béarla
      0 references
      hyperphenylalaninemia Béarla
      0 references
      galar
      0 references
      íomhá
      Phenylketonuria testing.jpg
      2,823 × 1,563; 972 KB
      cur síos ar an meán
      blood from a two‐week‐old being collected for phenylketonuria screening (Béarla)
      0 references
      ainm gearr
      PKU (Béarla)
      0 references
      PKU (Gearmáinis)
      0 references
      ΦΚΟ (Gréigis)
      0 references
      ICD-9-CM Béarla
      270.1
      1 reference
      ráite i
      Disease Ontology Béarla
      dáta rochtana
      15 Bealtaine 2019
      Disease Ontology ID Béarla
      DOID:9281
      NCI Thesaurus ID Béarla
      C81315
      1 reference
      ráite i
      Disease Ontology Béarla
      dáta rochtana
      15 Bealtaine 2019
      Disease Ontology ID Béarla
      DOID:9281
      catagóir Commons
      Phenylketonuria
      0 references

      Identifiers

      NL CR AUT ID Béarla
      ph120164
      luaite mar
      fenylketonurie
      0 references
      MeSH descriptor ID Béarla
      D010661
      luaite mar
      Phenylketonurias
      1 reference
      ráite i
      Disease Ontology Béarla
      dáta rochtana
      15 Bealtaine 2019
      Disease Ontology ID Béarla
      DOID:9281
      MeSH tree code Béarla
      C16.320.565.100.766
      0 references
      C16.320.565.189.687
      0 references
      C18.452.132.100.687
      0 references
      C18.452.648.100.766
      0 references
      C18.452.648.189.687
      0 references
      KEGG ID Béarla
      H00167
      0 references
      Disease Ontology ID Béarla
      DOID:9281
      1 reference
      ráite i
      Disease Ontology Béarla
      dáta rochtana
      30 Samhain 2020
      Disease Ontology ID Béarla
      DOID:9281
      Elhuyar ZTH ID Béarla
      024060
      0 references
      Freebase ID Béarla
      /m/05sgs
      1 reference
      ráite i
      Freebase Data Dumps Béarla
      dáta foilsithe
      28 Deireadh Fómhair 2013
      GARD rare disease ID Béarla
      7383
      1 reference
      ráite i
      Disease Ontology Béarla
      dáta rochtana
      15 Bealtaine 2019
      Disease Ontology ID Béarla
      DOID:9281
      ICD-11 ID (Foundation) Béarla
      444122923
      0 references
      ICD-11 ID (MMS) Béarla
      5C50.0
      luaite mar
      Phenylketonuria
      0 references
      Lex ID Béarla
      Føllings_sygdom
      0 references
      fenylketonuri
      0 references
      Microsoft Academic ID Béarla
      2908628568
      0 references
      2909581327
      0 references
      2910153849
      0 references
      Mondo ID Béarla
      MONDO_0009861
      0 references
      Namuwiki ID Béarla
      페닐케톤뇨증
      0 references
      NHS Health A to Z ID Béarla
      phenylketonuria
      0 references
      OMIM ID Béarla
      261600
      1 reference
      ráite i
      Disease Ontology Béarla
      dáta rochtana
      15 Bealtaine 2019
      Disease Ontology ID Béarla
      DOID:9281
      Orphanet ID Béarla
      716
      0 references
      UK Parliament thesaurus ID Béarla
      443904
      luaite mar
      Phenylketonuria
      0 references
      UMLS CUI Béarla
      C0031485
      1 reference
      ráite i
      Disease Ontology Béarla
      dáta rochtana
      15 Bealtaine 2019
      Disease Ontology ID Béarla
      DOID:9281
      UniProt disease ID Béarla
      DI-02159
      0 references
      WikiProjectMed ID Béarla
      Phenylketonuria
      0 references
      WikiSkripta article ID Béarla
      13985
      0 references
      59732
      0 references
      WordNet 3.1 Synset ID Béarla
      14530977-n
      1 reference
      ráite i
      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
                    Aisghafa ó "https://www.wikidata.org/w/index.php?title=Q194041&oldid=2378054987"