Tyrosinemia type 2

From BugSigDB


Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.
Aliases
  • Keratosis palmoplantaris - corneal dystrophy
  • keratosis palmoplantaris with corneal dystrophy
  • keratosis palmoplantaris-corneal dystrophy syndrome
  • Oculocutaneous tyrosinemia
  • oculocutaneous tyrosinemia
  • Oregon type tyrosinemia
  • Richner Hanhart syndrome
  • Richner-Hanhart syndrome
  • Tat deficiency
  • tyrosine aminotransferase deficiency
  • tyrosine transaminase deficiency
  • Tyrosinemia due to TAT deficiency
  • tyrosinemia due to TAT deficiency
  • Tyrosinemia due to tyrosine aminotransferase deficiency
  • tyrosinemia due to tyrosine aminotransferase deficiency
  • tyrosinemia type 2
  • Tyrosinemia type II
  • tyrosinemia type II
  • tyrosinemia type II
  • tyrosinemia, type 2
  • tyrosinemia, type II
  • Tyrosinosis oculocutaneous type
  • Tyrosinosis, oculocutaneous type
  • TYRSN2