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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
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 16108
    sensory system disease 5162
      skin disease 2749
        tyrosinemia type II 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            Metabolic Brain Diseases 574
              Metabolic Brain Diseases, Inborn 503
                tyrosinemia 11
                  tyrosinemia type II 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.