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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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Maternal Phenylketonuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pah phenylalanine hydroxylase ISO RGD PMID:14654659 RGD:1601526 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
JBrowse link
G Psph phosphoserine phosphatase IEP RGD PMID:7201630 RGD:2308873 NCBI chr12:30,514,128...30,526,551
Ensembl chr12:30,514,112...30,526,557
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      Urogenital Diseases 4143
        Female Urogenital Diseases and Pregnancy Complications 1896
          Pregnancy Complications 572
            Maternal Phenylketonuria 2
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        central nervous system disease 9008
          brain disease 8328
            Metabolic Brain Diseases 574
              Metabolic Brain Diseases, Inborn 503
                phenylketonuria 14
                  Maternal Phenylketonuria 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.