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疾病英文名:CHF - Congestive Heart Failure 疾病分类:非罕见病 血液系统疾病 心血管疾病 其他别名:Congestive Heart Disease …
疾病英文名:Thrombocytopenia, Cyclic 疾病分类:罕见病 血液系统疾病 其他别名:Cyclic Thrombocytopenia Thrombocytopen…
疾病英文名:CHDS2 - Coronary Heart Disease 2 疾病分类:非罕见病 血液系统疾病 心血管疾病 其他别名:Coronary Heart Disease,…
疾病英文名:Acute Myeloid Leukemia with Mutated Cebpa 疾病分类:非罕见病 血液系统疾病 肿瘤类疾病 其他别名: 疾病简介:急性髓系白血病伴…
疾病英文名:IBD2 - Inflammatory Bowel Disease 2 疾病分类:罕见病 血液系统疾病 骨骼肌类疾病 其他别名:Ibd2 疾病简介:炎症性肠病2,也称为…
疾病英文名:IMD52 - Immunodeficiency 52 疾病分类:罕见病 血液系统疾病 免疫系统疾病 其他别名:Severe Combined Immunodefici…
疾病英文名:BRBN - Blue Rubber Bleb Nevus 疾病分类:罕见病 血液系统疾病 心血管疾病 其他别名:Bean Syndrome Blue Rubber B…
疾病英文名:B-Lymphoblastic Leukemia/lymphoma with Iamp21 疾病分类:非罕见病 血液系统疾病 肿瘤类疾病 其他别名:Intrachrom…
疾病英文名:Classic Hodgkin Lymphoma, Lymphocyte-Rich Type 疾病分类:罕见病 血液系统疾病 免疫系统疾病 其他别名: 疾病简介:经典霍…
疾病英文名:AGM2 - Agammaglobulinemia 2, Autosomal Recessive 疾病分类:罕见病 血液系统疾病 肿瘤类疾病 其他别名:Agammagl…
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食管淋巴瘤,又名食管淋巴瘤,与成人急性淋巴细胞白血病和鼻型外周NK/T细胞淋巴瘤有关。与食管淋巴瘤有关的重要基因是ASPG(天冬氨酶),其相关通路/超级通路包括NF-κB信号通路和树突状细胞发育线谱通路。相关表型为肿瘤。 Esophagus Lymphoma
Proteus-Like Syndrome, also known as cohen-hayden syndrome, is related to cowden syndrome 1 and proteus syndrome. An important gene associated with Proteus-Like Syndrome is PTEN (Phosphatase And Tensin Homolog). Affiliated tissues include skin and eye, and related phenotypes are intellectual disability and open bite. Proteus-Like Syndrome
痢疾,也被称为传染性腹泻,与沙门氏菌病和志贺氏菌病有关,症状包括腹泻。与痢疾相关的重要基因是ALB(白蛋白),其相关通路/超级通路包括先天免疫系统和免疫系统的细胞因子信号通路。在该疾病的背景下,洛哌丁胺和甲苯咪唑已被提及。附属组织包括结肠和肝脏,相关表型是肿瘤。 Dysentery
皮肤T细胞淋巴瘤,也称为皮肤T细胞淋巴瘤,与淋巴增殖性疾病、X连锁1和淋巴瘤有关。与皮肤T细胞淋巴瘤相关的基因是CTLA4(细胞毒性T淋巴细胞相关蛋白4),其相关通路/超级通路包括先天免疫系统和信号转导。在该疾病的背景下,已经提到了Denileukin diftitox和Methotrexate这两种药物。附属组织包括皮肤和T细胞,相关表型为皮肤干燥和皮肤肿瘤。 Mycosis Fungoides
Abetalipoproteinemia, also known as acanthocytosis, is related to mitochondrial trifunctional protein deficiency and hypobetalipoproteinemia, familial, 2, and has symptoms including ataxia. An important gene associated with Abetalipoproteinemia is MTTP (Microsomal Triglyceride Transfer Protein), and among its related pathways/superpathways are Metabolism and Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs Tocopherol and DL-alpha-Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include eye and liver, and related phenotypes are steatorrhea and acanthocytosis. ABL – Abetalipoproteinemia