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DOID:0081132 - tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia
Disease Ontology Definition:An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4.
Synonyms:
Xenbase Genes
:
gch1,
qdpr,
pcbd1,
pts
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
amino acid metabolic disorder (is_a)