FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hawkinsinuria ID (Ontology) DOID:0111362 (Human Disease)
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.
Also Known As "4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency" ; "4-HPPD deficiency" ; "4-hydroxyphenylpyruvic acid dioxygenase deficiency"
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 Genes
 hawkinsinuria       1
 for disease ribbon | hawkinsinuria       1
 model of | hawkinsinuria       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease_____
inherited metabolic disorder       |
 |__amino acid metabolic disorder__|
                                   hawkinsinuria  1 rec.
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Is a autosomal dominant disease
amino acid metabolic disorder
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Synonyms
  • "4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency" EXACT
    "4-HPPD deficiency" EXACT
    "4-hydroxyphenylpyruvic acid dioxygenase deficiency" EXACT
Secondary IDs
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GARD:5668
MESH:C535845
MIM:140350
ORDO:2118
SNOMEDCT_US_2023_03_01:403001
UMLS_CUI:C2931042