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ONTOLOGY REPORT - ANNOTATIONS


Term:hawkinsinuria
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Accession:DOID:0111362 term browser browse the term
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. (DO)
Synonyms:exact_synonym: 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency;   4-HPPD deficiency;   4-hydroxyphenylpyruvic acid dioxygenase deficiency
 primary_id: MESH:C535845
 alt_id: DOID:9008030;   OMIM:140350;   RDO:0001179
 xref: GARD:5668;   ORDO:2118
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hawkinsinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpd 4-hydroxyphenylpyruvate dioxygenase JBrowse link 12 38,828,606 38,839,956 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15489
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        Metabolic Brain Diseases 477
          Metabolic Brain Diseases, Inborn 411
            tyrosinemia 6
              hawkinsinuria 1
Path 2
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      nervous system disease 10147
        central nervous system disease 8254
          brain disease 7600
            Metabolic Brain Diseases 477
              Metabolic Brain Diseases, Inborn 411
                tyrosinemia 6
                  hawkinsinuria 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.