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ONTOLOGY REPORT - ANNOTATIONS


Term:Phenylketonuria, Maternal
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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;   RDO:0007019
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Phenylketonuria, Maternal 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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Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      Urogenital Diseases 3755
        Female Urogenital Diseases and Pregnancy Complications 1530
          Pregnancy Complications 462
            Phenylketonuria, Maternal 2
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            Metabolic Brain Diseases 439
              Metabolic Brain Diseases, Inborn 383
                phenylketonuria 13
                  Phenylketonuria, Maternal 2
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