| Metadata | |
|---|---|
| ID | DOID:0050725 |
| Name | tyrosinemia type II |
| 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. http://en.wikipedia.org/wiki/Tyrosinemia_type_II, http://www.omim.org/entry/276600?search=276600&highlight=276600 |
| Xrefs | |
| Synonyms |
Oculocutaneous tyrosinemia [EXACT] Richner-Hanhart syndrome [EXACT] |
| Parent Relationships |
is_a liver disease is_a tyrosinemia is_a skin disease |
| Equivalent Logical Relationships |
amino acid metabolic disorder and disease has location some zone of skin and disease has location some liver |
| Subclass Logical Relationships |
has phenotype some Palmoplantar hyperkeratosis has symptom some keratitis has phenotype some Hypertyrosinemia |