WormBase Tree Display for DO_term: DOID:0111362
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| DOID:0111362 | Name | hawkinsinuria | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency | |||
| 4-HPPD deficiency | |||||
| 4-hydroxyphenylpyruvic acid dioxygenase deficiency | |||||
| Parent | Is_a | DOID:9252 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 140350 | |
| Attribute_of | Gene_by_orthology | WBGene00001993 |
