tyrosinemia type II
Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.
MONDO:0004741
tyrosinemia
is_a
MONDO:0005328
eye disorder
is_a
MONDO:0017672
focal palmoplantar keratoderma
is_a
Richner Hanhart syndrome
related
Richner-Hanhart syndrome
exact
TYRSN2
related
Tyrosinosis oculocutaneous type
related
keratosis palmoplantaris-corneal dystrophy syndrome
exact
oculocutaneous tyrosinemia
exact
tyrosinemia due to TAT deficiency
exact
tyrosinemia due to tyrosine aminotransferase deficiency
exact
tyrosinemia type 2
related
tyrosinemia type II
exact
tyrosinemia, type II
related