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 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