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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 I
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Accession:DOID:0050726 term browser browse the term
Definition:A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. (DO)
Synonyms:exact_synonym: TYRSN1;   hepatorenal tyrosinemia;   hepatorenal tyrosinemias;   hereditary tyrosinemia, type I;   type I hypertyrosinemia;   tyrosinemia type 1
 primary_id: MIM:276700
 xref: NCI:C98641

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tyrosinemia type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd17c abhydrolase domain containing 17C, depalmitoylase ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chrNW_004955416:11,495,651...11,543,276
Ensembl chrNW_004955416:11,495,651...11,543,405 		JBrowse link
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chrNW_004955416:11,279,866...11,429,365
Ensembl chrNW_004955416:11,308,846...11,429,365 		JBrowse link
G Cemip cell migration inducing hyaluronidase 1 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chrNW_004955416:11,562,047...11,699,925
Ensembl chrNW_004955416:11,613,316...11,699,925 		JBrowse link
G Fah fumarylacetoacetate hydrolase treatment ISO ClinVar Annotator: match by term: Tyrosinemia type I OMIM
RGD
ClinVar		 PMID:1401056 PMID:7550234 PMID:7757089 PMID:7929843 PMID:7942842 More... RGD:14401588 NCBI chrNW_004955533:904,294...921,730
Ensembl chrNW_004955533:904,295...921,730 		JBrowse link
G Mesd mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chrNW_004955416:11,722,388...11,731,758
Ensembl chrNW_004955416:11,722,388...11,731,758 		JBrowse link
G Zfand6 zinc finger AN1-type containing 6 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chrNW_004955533:823,883...895,713
Ensembl chrNW_004955533:877,985...894,934 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    Nutritional and Metabolic Diseases 6989
      disease of metabolism 6989
        inherited metabolic disorder 5528
          Metabolic Brain Diseases, Inborn 1271
            tyrosinemia 9
              tyrosinemia type I 6
Path 2
Term Annotations click to browse term
  disease 14336
    disease of anatomical entity 14029
      nervous system disease 12348
        central nervous system disease 11070
          brain disease 10386
            Metabolic Brain Diseases 1390
              Metabolic Brain Diseases, Inborn 1271
                tyrosinemia 9
                  tyrosinemia type I 6
paths to the root