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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:BH4-deficient hyperphenylalaninemia A
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Accession:DOID:0090106 term browser browse the term
Definition:An amino acid metabolic disorder that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. (DO)
Synonyms:exact_synonym: 6-pyruvoyl-tetrahydropterin synthase deficiency;   HPABH4A;   Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency;   Hyperphenylalaninemia, BH4-Deficient, Type A;   PTS Deficiency;   tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency;   tetrahydrobiopterin-deficient hyperphenylalaninemia, due to PTS deficiency
 narrow_synonym: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, DUE TO PARTIAL PTS DEFICIENCY
 primary_id: MESH:C535325
 alt_id: OMIM:261640
 xref: GARD:5682;   NCI:C138171;   ORDO:13
For additional species annotation, visit the Alliance of Genome Resources.


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BH4-deficient hyperphenylalaninemia A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:25741868 NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698 		JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency ClinVar PMID:7981714 PMID:8088845 PMID:8268925 PMID:8533759 PMID:8830172 More... NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A OMIM
ClinVar		 PMID:3297709 PMID:7493990 PMID:7563095 PMID:7698774 PMID:8178819 More... NCBI chr 8:50,870,838...50,877,878
Ensembl chr 8:50,870,841...50,877,869 		JBrowse link
G Qdpr quinoid dihydropteridine reductase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:25741868 NCBI chr14:65,670,251...65,683,853
Ensembl chr14:65,670,131...65,683,854 		JBrowse link
G Tex12 testis expressed 12 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:7563095 PMID:19830588 PMID:20059486 PMID:25741868 PMID:28492532 More... NCBI chr 8:50,908,161...50,913,205
Ensembl chr 8:50,909,052...50,913,217 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        inherited metabolic disorder 4644
          amino acid metabolic disorder 801
            BH4-deficient hyperphenylalaninemia A 5
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            Metabolic Brain Diseases 845
              Metabolic Brain Diseases, Inborn 745
                phenylketonuria 15
                  BH4-deficient hyperphenylalaninemia A 5
paths to the root