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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:Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency
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Accession:DOID:9008812 term browser browse the term
Synonyms:exact_synonym: Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency
 primary_id: MESH:C567493


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Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO ClinVar Annotator: match by term: Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency ClinVar PMID:7493990 PMID:8178819 PMID:10220141 PMID:22237589 PMID:25741868 More... NCBI chr 8:50,870,838...50,877,869
Ensembl chr 8:50,870,841...50,877,869 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Nutritional and Metabolic Diseases 8542
      disease of metabolism 8542
        inherited metabolic disorder 6620
          Metabolic Brain Diseases, Inborn 1386
            phenylketonuria 43
              Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            Metabolic Brain Diseases 1519
              Metabolic Brain Diseases, Inborn 1386
                phenylketonuria 43
                  Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency 1
paths to the root