DO_rare_slim has material basis in autosomal dominant disease hawkinsinuria disease_ontology 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. MESH:C535845 MIM:140350 UMLS_CUI:C2931042 DOID:0111362 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency 4-hydroxyphenylpyruvic acid dioxygenase deficiency GARD:5668 SNOMEDCT_US_2025_09_01:403001 ORDO:2118 4-HPPD deficiency amino acid metabolic disorder autosomal dominant inheritance