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疾病英文名:Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 疾病分类:非罕见病 神经精神疾病 其他别名: 疾病简介…
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粘液表型支气管肺腺癌,也称为支气管肺腺癌、粘液表型,与小细胞肺癌和结直肠腺癌有关,症状包括发热、咯血和呼吸困难。与粘液表型支气管肺腺癌相关的基因是NKX2-1(NK2同源框1),其相关通路/超级通路包括植入前胚胎。附属组织包括肺。 Mucinous Bronchioloalveolar Adenocarcinoma
吡哆醇缺乏性贫血,也称为维生素B6缺乏症,与高同型半胱氨酸血症和动脉硬化有关。与吡哆醇缺乏性贫血有关的重要基因是IGFBP1(胰岛素样生长因子结合蛋白1),其相关通路/超级通路包括p70S6K信号通路和FOX A2和FOX A3转录因子网络。在该疾病的背景下提到了Racemethionine和Pyridoxine这两种药物。 Pyridoxine Deficiency Anemia
皮肤非黑素性黑素瘤,又称皮肤非黑素性恶性黑素瘤,与非黑素性黑素瘤有关。与皮肤非黑素性黑素瘤有关的重要基因是IK(IK细胞因子)。附属组织包括皮肤。 Skin Amelanotic Melanoma
Keratoconjunctivitis Sicca, also known as 干眼症, is related to keratoconjunctivitis and aplasia of lacrimal and salivary glands, and has symptoms including 眼部表现, 干眼症 and dacryops. An important gene associated with Keratoconjunctivitis Sicca is LTF (Lactotransferrin), and among its related pathways/superpathways are 先天免疫系统 和 ERK Signaling. The drugs Fluorometholone and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include 眼睛 和 salivary gland, and related phenotypes are homeostasis/metabolism and 免疫系统. KCS – Keratoconjunctivitis Sicca
酒精性肝炎,又称急性酒精性肝病,与酒精依赖和肝炎有关。与酒精性肝炎相关的基因是F2(凝血因子II,凝血酶),其相关通路/超级通路包括先天免疫系统和疾病。在该疾病的背景下,已提到药物泼尼松和潘托菲林。附属组织包括肝脏和大脑,相关表型为稳态/新陈代谢和生长/大小/身体部位。 Alcoholic Hepatitis