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.
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