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中文Tyrosinemia
Alias:
Hypertyrosinemia
Tyrosinemias
Hereditary Hypertyrosinemia
Hereditary Tyrosinemia
Hypertyrosinaemia
Tyrosinaemia
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酪氨酸血症，也称为高酪氨酸血症，与酪氨酸血症II型和酪氨酸血症III型有关。与酪氨酸血症相关的基因是HPD（4-羟基苯基丙酮酸双氧酶），其相关通路/超级通路包括代谢和SLITs和ROBOs的表达调控。在该疾病的背景下提到了尼替尼酮和酶抑制剂。相关组织包括肝脏和肾脏，相关表型为减少的乳腺泡形成和稳态/代谢
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MALACARDS
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MGI
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