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Term:Maternal Phenylketonuria
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Accession:DOID:9008397 term browser browse the term
Definition:A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95)
Synonyms:exact_synonym: Maternal Phenylalanine Hydroxylase Deficiency Disease;   PKU, Maternal;   Pregnancy in Phenylketonuria;   Pregnancy in Phenylketonurias
 primary_id: MESH:D017042
 alt_id: RDO:0007019
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Maternal Phenylketonuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pah phenylalanine hydroxylase JBrowse link 7 28,066,639 28,129,772 RGD:1601526
G Psph phosphoserine phosphatase JBrowse link 12 30,514,128 30,526,551 RGD:2308873

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Path 1
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      Urogenital Diseases 4033
        Female Urogenital Diseases and Pregnancy Complications 1823
          Pregnancy Complications 529
            Maternal Phenylketonuria 2
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            Metabolic Brain Diseases 567
              Metabolic Brain Diseases, Inborn 497
                phenylketonuria 14
                  Maternal Phenylketonuria 2
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