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.
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 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
ClinVar Annotator: match by OMIM:233910 ClinVar Annotator: match by term: GTP cyclohydrolase I deficiency ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-Deficient, B