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中文Tyrosinemia, Type Ii (TYRSN2)
Alias:
Tyrosinemia Type Ii
Oculocutaneous Tyrosinemia
Richner-Hanhart Syndrome
Keratosis Palmoplantaris with Corneal Dystrophy
Tyrosinemia Due to Tyrosine Aminotransferase Deficiency
Keratosis Palmoplantaris-Corneal Dystrophy Syndrome
Tyrosine Aminotransferase Deficiency
Tyrosinemia Due to Tat Deficiency
Tyrosine Transaminase Deficiency
Tyrosinemia Type 2
Tat Deficiency
Tyrsn2
Tyrosine Transaminase Deficiency Disease
Tyrosinosis, Oculocutaneous Type
Tyrosinosis Oculocutaneous Type
Oregon Type Tyrosinemia
Tyrosinemia Oregon Type
Tyrosinemia 2
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酪氨酸血症，II型，又称酪氨酸血症II型，与酪氨酸血症和角膜炎有关，是遗传性的。与酪氨酸血症II型相关的基因是TAT（酪氨酸氨基转移酶），其相关通路/超级通路包括代谢和SLITs和ROBOs的表达调控。相关组织包括皮肤和眼睛，相关表型包括智力障碍和角膜混浊。
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MALACARDS
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