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疾病英文名:SHEP5 - Skin/hair/eye Pigmentation, Variation in, 5 疾病分类:非罕见病 肿瘤类疾病 眼科疾病 其他别名:Skin/h…
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Oligohydramnios, also known as oligohydramnios – delivered, is related to potter’s syndrome and renal tubular dysgenesis, and has symptoms including morning sickness. An important gene associated with Oligohydramnios is PKHD1 (PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin), and among its related pathways/superpathways are Peptide hormone metabolism and Ciliopathies. The drugs Tocopherol and Warfarin have been mentioned in the context of this disorder. Affiliated tissues include placenta and lung, and related phenotypes are growth/size/body region and nervous system. Oligohydramnios
白质脑病,进行性,伴有卵巢功能不全,也称为Leukenp,与联合氧化磷酸化缺陷8和脱髓性白质脑病有关,症状包括共济失调、震颤和肌肉痉挛。与白质脑病,进行性,伴有卵巢功能不全有关的重要基因是AARS2(线粒体Alanyl-TRNA合成酶2)。附属组织包括大脑,相关表型为小脑萎缩和痉挛 LKENP – Leukoencephalopathy, Progressive, with Ovarian Failure
阿司匹林过敏,又称乙酰水杨酸过敏,与荨麻疹和过敏性疾病有关。与阿司匹林过敏相关的基因是P2RY12(Purinergic Receptor P2Y12),其相关通路/超级通路包括衰老中的前列腺素和白三烯代谢以及血小板聚集抑制通路,药理学。在该疾病的背景下,提到的药物包括对乙酰氨基酚和乙酰水杨酸。附属组织包括内皮和心脏,相关表型是稳态/代谢。 Aspirin Allergy
阴道内膜间质肉瘤与肉瘤和内膜间质肉瘤有关。与阴道内膜间质肉瘤相关的基因是JAZF1(JAZF锌指1),其相关通路/超级通路包括信号转导和受体酪氨酸激酶信号通路。相关表型包括shRNA丰度增加(Z-score>2)和细胞。 Vaginal Endometrial Stromal Sarcoma
食管腺样囊癌,也称为腺样囊癌,食管,与腺样囊癌和泪腺粘液表皮样癌有关,症状包括疼痛。与食管腺样囊癌相关的重要基因是CRTC3(CREB调节转录共激活因子3),其相关通路/超级通路包括线粒体生物发生转录激活和昼夜节律钟。附属组织包括唾液腺。 Esophageal Adenoid Cystic Carcinoma