|OBO ID: DOID:0090106|
|Term Name:||Bh4-deficient hyperphenylalaninemia A||Search Ontology:|
|Definition:||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. (2)|
|Ontology:||Human Disease (DOID:0090106)|
|is a type of:||
OTHER Bh4-deficient hyperphenylalaninemia A PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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