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疾病英文名:Subaortic Stenosis, Membranous 疾病分类:罕见病 心血管疾病 致命性疾病 其他别名:Discrete Fixed Membranous S…
疾病英文名:Tapetoretinal Degeneration with Ataxia 疾病分类:罕见病 神经精神疾病 其他别名:Ataxia-Tapetoretinal Deg…
疾病英文名:Adrenal Hypoplasia, Cytomegalic Type 疾病分类:非罕见病 内分泌类疾病 其他别名: 疾病简介:肾上腺发育不全,细胞质型。相关组织包括…
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脑淋巴瘤,又称原发性脑淋巴瘤,与中枢神经系统淋巴瘤和眼内淋巴瘤有关。与脑淋巴瘤相关的重要基因是CD4(CD4分子),其相关通路/超级通路包括免疫反应FcεRI通路和BCR信号通路。在该疾病的背景下,已经提到了甲氨蝶呤和阿糖胞苷。附属组织包括大脑和肾脏,相关表型是shRNA丰度增加(Z分数>2)。 Cerebral Lymphoma
超磷酸酶血症伴智力发育障碍1,也称为超磷酸酶血症伴智力障碍1,与超磷酸酶血症智力障碍和韦斯特综合症有关。与超磷酸酶血症伴智力发育障碍1有关的重要基因是PIGV(磷脂酰肌醇甘露糖锚定生物合成V类),其相关通路/超级通路包括蛋白质代谢和翻译后修饰:GPI锚定蛋白质的合成。附属组织包括骨髓和心脏,相关表型包括上睑裂开和薄上唇红唇。 HPMRS1 – Hyperphosphatasia with Impaired Intellectual Development Syndrome 1
暴露症与偷窥症和恋童癖有关。与暴露症有关的重要基因是H2AC18(H2A簇状组蛋白18),其相关通路/超级通路包括单胺类转运和选择性5-羟色胺再摄取抑制剂通路,药理动力学。附属组织包括颞叶和大脑。 Exhibitionism
胰腺侵袭性导管内乳头状黏液性癌 Pancreatic Invasive Intraductal Papillary-Mucinous Carcinoma
Ataxia, Sensory, 1, Autosomal Dominant, also known as autosomal dominant sensory ataxia 1, is related to attention deficit-hyperactivity disorder and non-alcoholic fatty liver disease, and has symptoms including ataxia. An important gene associated with Ataxia, Sensory, 1, Autosomal Dominant is RNF170 (Ring Finger Protein 170), and among its related pathways/superpathways is Class I MHC mediated antigen processing and presentation. The drugs Antibodies and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and brain, and related phenotypes are areflexia and hyporeflexia. SNAX1 – Ataxia, Sensory, 1, Autosomal Dominant