loading...| Preferred Name |
hawkinsinuria |
| Synonyms |
4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111362 |
| database_cross_reference |
UMLS_CUI:C2931042 SNOMEDCT_US_2022_09_01:403001 MESH:C535845 GARD:5668 OMIM:140350 ORDO:2118 |
| 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. |
| has exact synonym |
4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency 4-HPPD deficiency 4-hydroxyphenylpyruvic acid dioxygenase deficiency |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111362 |
| in_subset | |
| label |
hawkinsinuria |
| notation |
DOID:0111362 |
| prefLabel |
hawkinsinuria |
| subClassOf |