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Summary Literature (0)
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


MIM:
MIM:233910 - HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B

Other Model Organisms: Alliance, 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)