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疾病英文名:DEE79 - Developmental and Epileptic Encephalopathy 79 疾病分类:罕见病 肿瘤类疾病 其它疾病 其他别名:Epile…
疾病英文名:EJM9 - Epilepsy, Juvenile Myoclonic 9 疾病分类:罕见病 眼科疾病 骨骼肌类疾病 其他别名:Ejm9 Epilepsy, Juven…
疾病英文名:WABS - Warsaw Breakage Syndrome 疾病分类:罕见病 其它疾病 致命性疾病 其他别名:Wabs Wbrs 疾病简介:华沙断裂综合症,也被称为…
疾病英文名:Torticollis 疾病分类:罕见病 骨骼肌类疾病 其他别名:Wry Neck/torticollis Contracture of Neck Wry Neck 疾…
疾病英文名:Spotted Fever Rickettsiosis 疾病分类:罕见病 感染性疾病 其他别名:Spotted Fever Rickettsiae Disease 疾病…
疾病英文名:MDDGB6 - Muscular Dystrophy-Dystroglycanopathy , Type B, 6 疾病分类:罕见病 心血管疾病 眼科疾病 其他别名:…
疾病英文名:OPA1 - Optic Atrophy 1 疾病分类:罕见病 其它疾病 眼科疾病 其他别名:Optic Atrophy Type 1 Opa1 Optic Atrop…
疾病英文名:RVCLS - Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manife…
疾病英文名:Ascending Aorta Anomaly 疾病分类:罕见病 心血管疾病 致命性疾病 其他别名: 疾病简介:主动脉升部异常 遗传模式:该疾病的遗传方式暂未清晰 发病…
疾病英文名:Glutamate-Cysteine Ligase Deficiency 疾病分类:罕见病 血液系统疾病 其他别名:Gamma-Glutamylcysteine Syn…
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Aicardi-Goutieres Syndrome, also known as Aicardi-Goutieres Syndrome 1 and Aicardi-Goutieres Syndrome 2, is related to aicardi-goutieres syndrome 1 and aicardi-goutieres syndrome 2, and has symptoms including seizures and petechiae of skin. An important gene associated with Aicardi-Goutieres Syndrome is RNASEH2B (Ribonuclease H2 Subunit B), and among its related pathways/superpathways are SARS-CoV-1-host interactions and DDX58/IFIH1-mediated induction of interferon-alpha/beta. The drugs Abacavir and Lamivudine have been mentioned in the context of this disorder. Affiliated tissues include brain and spinal cord, and related phenotypes are global developmental delay and arrhinencephaly. AGS – Aicardi-Goutieres Syndrome
急性单核细胞白血病,也称为急性单核细胞白血病,不提缓解,与白血病、急性单核细胞白血病和单核细胞白血病有关。附属组织包括髓系和骨髓,相关表型为急性单核细胞白血病和疲劳 Acute Monoblastic/monocytic Leukemia
刺痛相关血管病,婴儿期发病,也被称为自身炎症性血管病综合征,与刺痛相关血管病在婴儿期发病和梅顿单胎综合征有关,症状包括发热和指甲脱落。与刺痛相关血管病,婴儿期发病有关的重要基因是STING1(干扰素刺激因子CGAMP互作蛋白1)。附属组织包括肺和皮肤,相关表型包括发育不良和关节僵硬。 SAVI – Sting-Associated Vasculopathy, Infantile-Onset
alk+大B细胞淋巴瘤,也称为alk阳性大B细胞淋巴瘤,与B细胞淋巴瘤和Burkitt淋巴瘤有关。与alk+大B细胞淋巴瘤有关的重要基因是ALK(ALK受体酪氨酸激酶)。Nivolumab和Pembrolizumab已在这种疾病的背景下被提及。附属组织包括骨髓和脾脏。 Alk-Positive Large B-Cell Lymphoma
T型混合表型急性白血病,也称为T型mpal;kmt2a重排,与T型混合表型急性白血病(9;22)(q34.1;q11.2)和急性白血病有关。与T型混合表型急性白血病相关的基因是FLT3(Fms相关受体酪氨酸激酶3)。附属组织包括髓系。 Mixed Phenotype Acute Leukemia with T