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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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
ClinVar
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 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2355
          Metabolic Brain Diseases, Inborn 516
            tyrosinemia 12
              tyrosinemia type III 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            Metabolic Brain Diseases 586
              Metabolic Brain Diseases, Inborn 516
                tyrosinemia 12
                  tyrosinemia type III 1
paths to the root