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疾病英文名:ASTHMA - Asthma 疾病分类:罕见病 呼吸道疾病 其他别名:Chronic Obstructive Asthma Asthma, Diminished Re…
疾病英文名:Maxillonasal Dysplasia, Binder Type 疾病分类:罕见病 其它疾病 致命性疾病 其他别名:Binder Syndrome Binder …
疾病英文名:Microtia-Anotia 疾病分类:罕见病 其它疾病 致命性疾病 其他别名:Anotia Congenital Absence of External Ear C…
疾病英文名:LCPD - Legg-Calve-Perthes Disease 疾病分类:罕见病 血液系统疾病 骨骼肌类疾病 其他别名:Perthes Disease Coxa P…
疾病英文名:Carabelli Anomaly of Maxillary Molar Teeth 疾病分类:非罕见病 其他别名: 疾病简介:Carabelli Anomaly of…
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血管内血管平滑肌瘤与心脏平滑肌肉瘤和黏液肉瘤有关。与血管内血管平滑肌瘤有关的重要基因是CALD1(钙调蛋白1)。 Intravascular Angioleiomyoma
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
粘连性中耳炎,又称粘连性中耳病,与鼓膜钙化和中耳炎有关。与粘连性中耳炎相关的基因是RHOXF1(Rhox同源框家族成员1),其相关通路/超通路包括NMDA受体的激活和后突触事件。附属组织包括骨,相关表型是饥饿后纤毛长度增加。 Adhesive Otitis Media
西伯利亚斑疹伤寒,又称北亚斑疹伤寒,与斑疹伤寒和选择性宫内生长受限有关,症状包括发热、斑丘疹和结痂。与西伯利亚斑疹伤寒有关的重要基因是PLEKHG4(Pleckstrin Homology And RhoGEF Domain Containing G4)。在该疾病的背景下,阿齐霉素和多西环素已被提及。 Siberian Tick Typhus
慢性肾盂肾炎与肾盂肾炎和尿路感染有关。与慢性肾盂肾炎相关的基因是UMOD(尿蛋白),其相关通路/超级通路包括造血干细胞和谱系特异性标记物和作用于肾素-血管紧张素系统通路的药物,药理动力学。附属组织包括肾脏和脊髓,相关表型为稳态/代谢和免疫系统。 Chronic Pyelonephritis