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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 B
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Accession:DOID:0112225 term browser browse the term
Definition:A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in the GCH1 gene on chromosome 14q22.2. (DO)
Synonyms:exact_synonym: GTP Cyclohydrolase I Deficiency;   GTP cyclohydrolase 1 deficiency;   HPABH4B;   tetrahydrobiopterin-deficient hyperphenylalaninemia B;   tetrahydrobiopterin-deficient hyperphenylalaninemia due to GTP cyclohydrolase I deficiency
 narrow_synonym: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE
 primary_id: MESH:C562656
 alt_id: OMIM:233910
 xref: NCI:C141442;   ORDO:2102


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BH4-deficient hyperphenylalaninemia B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gch1 GTP cyclohydrolase 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:233910
ClinVar Annotator: match by term: GTP cyclohydrolase I deficiency | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-Deficient, B		 OMIM
CTD
MouseDO
ClinVar		 PMID:7730309 PMID:7869202 PMID:8852666 PMID:9328244 PMID:9536098 More... NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698 		JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO GTP CYCLOHYDROLASE I DEFICIENCY | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-Deficient, B ClinVar PMID:7493990 PMID:8707300 PMID:9450907 PMID:10319579 PMID:11388593 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 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        inherited metabolic disorder 6257
          amino acid metabolic disorder 1523
            phenylketonuria 42
              BH4-deficient hyperphenylalaninemia B 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        central nervous system disease 12429
          brain disease 11667
            Metabolic Brain Diseases 1489
              Metabolic Brain Diseases, Inborn 1357
                phenylketonuria 42
                  BH4-deficient hyperphenylalaninemia B 2
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