Tyrosinemia type II

MONDO:0010160

Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.

Also known as: Richner-Hanhart syndrome, keratosis palmoplantaris-corneal dystrophy syndrome, oculocutaneous tyrosinemia, tyrosinemia due to TAT deficiency, tyrosinemia due to tyrosine aminotransferase deficiency, tyrosinemia type II, Oregon type tyrosinemia, Richner Hanhart syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Tyrosinemia type II itself.

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↑ Eye disorder (3068) ↑ Tyrosinemia (6) ↑ Focal palmoplantar keratoderma (1)

Including sub-types (0) Tagged with Tyrosinemia type II (0)

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