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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:tyrosinemia type III
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Accession:DOID:0050727 term browser browse the term
Definition:A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine. (DO)
Synonyms:exact_synonym: 4 hydroxyphenol pyruvic acid oxidase deficiency disease;   4 hydroxyphenylpyruvate dioxygenase deficiency disease;   4-hydroxyphenylpyruvate dioxygenase deficiencies;   4-hydroxyphenylpyruvate dioxygenase deficiency;   4-hydroxyphenylpyruvic acid oxidase deficiency;   TYRSN3;   hereditary tyrosinemia, type III
 primary_id: OMIM:276710
For additional species annotation, visit the Alliance of Genome Resources.

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tyrosinemia type III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO ClinVar Annotator: match by term: 4-Hydroxyphenylpyruvate dioxygenase deficiency OMIM
PMID:9343288, PMID:10942115, PMID:17560158, PMID:25741868, PMID:28492532 NCBI chr12:38,828,606...38,839,956
Ensembl chr12:38,828,444...38,839,969
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          Metabolic Brain Diseases, Inborn 505
            tyrosinemia 11
              tyrosinemia type III 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            Metabolic Brain Diseases 576
              Metabolic Brain Diseases, Inborn 505
                tyrosinemia 11
                  tyrosinemia type III 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.