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疾病英文名:T1D15 - Type 1 Diabetes Mellitus 15 疾病分类:罕见病 血液系统疾病 内分泌类疾病 其他别名:Diabetes Mellitus, I…
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门静脉高压症,非肝硬化型1,也称为门静脉高压症,非肝硬化型,与门静脉高压症,非肝硬化型2和结节性再生性增生有关。与门静脉高压症,非肝硬化型1相关的基因是DGUOK(脱氧鸟苷激酶)。在该疾病的背景下,已经提到了蛋白质C和肝提取物。附属组织包括肝脏和脾脏,相关表型为脾肿大和肝肿大。 NCPH1 – Portal Hypertension, Noncirrhotic, 1
再生性贫血,又称为难治性贫血,与钻石-布莱班贫血1和钻石-布莱班贫血有关。与再生性贫血有关的重要基因是TBXAS1(血栓素A合酶1)。附属组织包括T细胞和骨髓,相关表型为苍白和骨髓低细胞。 Aregenerative Anemia
综合征性遗传性血小板减少症与孤立性遗传性血小板减少症和血小板减少症6有关。 Syndromic Constitutional Thrombocytopenia
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
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome, also known as atrus syndrome, is related to synostosis and thrombocytopenia, and has symptoms including petechiae of skin. An important gene associated with Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome is HOXA11 (Homeobox A11). Affiliated tissues include bone and skin, and related phenotypes are clinodactyly of the 5th finger and radioulnar synostosis. Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome