|
DOID:0112225 - BH4-deficient hyperphenylalaninemia B
Disease Ontology 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 the GCH1 gene on chromosome 14q22.2.
Synonyms: GTP cyclohydrolase 1 deficiency, HPABH4B, tetrahydrobiopterin-deficient hyperphenylalaninemia B,
Xenbase Genes
:
gch1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (is_a)