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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 II
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Accession:DOID:0050725 term browser browse the term
Definition:A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. (DO)
Synonyms:exact_synonym: Richner-Hanhart syndrome;   Richner-Hanhart syndrome, tyrosinosis, oculocutaneous type;   Richner-Hanhart syndromes;   TYRSN2;   hereditary tyrosinemia type II;   oculocutaneous tyrosinemia;   type 2 tyrosinemia;   type 2 tyrosinemias;   type II tyrosinemias
 primary_id: OMIM:276600
 xref: NCI:C129032;   ORDO:28378



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tyrosinemia type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tat tyrosine aminotransferase ISO ClinVar Annotator: match by term: Tyrosinemia type II OMIM
ClinVar
PMID:1357662 PMID:9536098 PMID:9544843 PMID:16199547 PMID:16574453 More... NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6939
      skin disease 3960
        tyrosinemia type II 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            Metabolic Brain Diseases 1487
              Metabolic Brain Diseases, Inborn 1354
                tyrosinemia 12
                  tyrosinemia type II 1
paths to the root