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Disease Ontology Browser
hawkinsinuria (DOID:0111362)
Alliance: disease page
Synonyms: 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency; 4-HPPD deficiency; 4-hydroxyphenylpyruvic acid dioxygenase deficiency
Alt IDs: OMIM:140350, MESH:C535845, ORDO:2118, UMLS_CUI:C2931042
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory