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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
 xref: MESH:D017042;   MONDO:0016366


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Maternal Phenylketonuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100993185 putative phosphoserine phosphatase-like protein ISO RGD PMID:7201630 RGD:2308873 NCBI chr 7:56,351,434...56,376,714 JBrowse link
G PAH phenylalanine hydroxylase ISO RGD PMID:14654659 RGD:1601526 NCBI chr12:100,417,267...100,496,888
Ensembl chr12:103,811,761...103,891,726 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15833
    disease of anatomical entity 15489
      Urogenital Diseases 4909
        Female Urogenital Diseases and Pregnancy Complications 2571
          Pregnancy Complications 756
            Maternal Phenylketonuria 2
Path 2
Term Annotations click to browse term
  disease 15833
    disease of anatomical entity 15489
      nervous system disease 13585
        central nervous system disease 12148
          brain disease 11411
            Metabolic Brain Diseases 1533
              Metabolic Brain Diseases, Inborn 1396
                phenylketonuria 40
                  Maternal Phenylketonuria 2
paths to the root