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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 GCH1 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
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by term: GTP cyclohydrolase I deficiency | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-Deficient, B OMIM
ClinVar
PMID:1530300 PMID:7730309 PMID:7869202 PMID:8852666 PMID:9328244 More... NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Nutritional and Metabolic Diseases 6770
      disease of metabolism 6770
        inherited metabolic disorder 4673
          amino acid metabolic disorder 802
            phenylketonuria 15
              BH4-deficient hyperphenylalaninemia B 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        central nervous system disease 11323
          brain disease 10618
            Metabolic Brain Diseases 853
              Metabolic Brain Diseases, Inborn 743
                phenylketonuria 15
                  BH4-deficient hyperphenylalaninemia B 1
paths to the root