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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 2
ClinVar Annotator: match by term: Tyrosinemia type II
OMIM
ClinVar
PMID:1357662 PMID:9544843 PMID:16917729 PMID:18577048 PMID:21145993 PMID:25741868 PMID:25784227 PMID:27285949 PMID:27832414 PMID:28255985 PMID:28492532 NCBI chr19:41,675,639...41,686,195
Ensembl chr19:41,675,355...41,686,229
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    sensory system disease 5335
      skin disease 2746
        tyrosinemia type II 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        central nervous system disease 10202
          brain disease 9574
            Metabolic Brain Diseases 587
              Metabolic Brain Diseases, Inborn 517
                tyrosinemia 12
                  tyrosinemia type II 1
paths to the root