loading...| Preferred Name |
hawkinsinuria |
|
| Synonyms |
4-hydroxyphenylpyruvic acid dioxygenase 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 |
MESH:C535845 OMIM:140350 SNOMEDCT_US_2023_03_01:403001 UMLS_CUI:C2931042 GARD:5668 ORDO:2118 |
|
| has exact synonym |
4-hydroxyphenylpyruvic acid dioxygenase deficiency 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency 4-HPPD deficiency |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111362 |
|
| in_subset | ||
| label |
hawkinsinuria |
|
| notation |
DOID:0111362 |
|
| prefLabel |
hawkinsinuria |
|
| textual 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. |
|
| subClassOf |