Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
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 chrNW_004624750:5,527,720...5,598,173
Ensembl chrNW_004624750:5,527,638...5,601,964 		JBrowse link
G Psph phosphoserine phosphatase ISO RGD PMID:7201630 RGD:2308873 NCBI chrNW_004624740:8,212,051...8,233,358
Ensembl chrNW_004624740:8,213,574...8,226,224 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14229
    disease of anatomical entity 13931
      Urogenital Diseases 4530
        Female Urogenital Diseases and Pregnancy Complications 2389
          Pregnancy Complications 697
            Maternal Phenylketonuria 2
Path 2
Term Annotations click to browse term
  disease 14229
    disease of anatomical entity 13931
      nervous system disease 12269
        central nervous system disease 10992
          brain disease 10306
            Metabolic Brain Diseases 1388
              Metabolic Brain Diseases, Inborn 1269
                phenylketonuria 41
                  Maternal Phenylketonuria 2
paths to the root