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Summary Literature (0)
DOID:0111362 - hawkinsinuria

Disease Ontology Definition:An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31.

Synonyms: 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency, 4-HPPD deficiency, 4-hydroxyphenylpyruvic acid dioxygenase deficiency

Xenbase Genes : hpd



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amino acid metabolic disorder (is_a), autosomal dominant disease (is_a)