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疾病英文名:RA - Rheumatoid Arthritis 疾病分类:罕见病 骨骼肌类疾病 免疫系统疾病 其他别名:Ra Arthritis, Rheumatoid Rheum…
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蓝斑病,又称关节外膜结节性肉芽肿,与葡萄膜炎和结节病有关。与蓝斑病有关的重要基因是NOD2(核苷酸结合寡聚体化域含2),其相关通路/超级通路包括先天免疫系统和疾病。附属组织包括皮肤和眼睛,相关表型为关节痛和关节肿胀。 BLAUS – Blau Syndrome
也被称为骨发育不全-智力障碍-传导性耳聋综合征,与发育不全有关。附属组织包括骨骼,相关表型为智力障碍、轻度和传导性听力障碍 Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Pycnodysostosis, also known as pyknodysostosis, is related to osteomyelitis and cleidocranial dysplasia 1, and has symptoms including grooving of nail. An important gene associated with Pycnodysostosis is CTSK (Cathepsin K), and among its related pathways/superpathways are Clock-controlled autophagy in bone metabolism and IL6-mediated signaling events. Affiliated tissues include bone and skin, and related phenotypes are frontal bossing and brachydactyly. PKND – Pycnodysostosis
与Lrp5相关性原发性骨质疏松症有关的重要基因是LRP5(LDL受体相关蛋白5)。附属组织包括骨骼。 Lrp5-Related Primary Osteoporosis
中等恶性畸胎瘤,也称为恶性畸胎瘤,中等,与染色体三倍体和绒毛血管瘤有关。与中等恶性畸胎瘤相关的基因是AFP(α-胎儿蛋白),其相关通路/超级通路包括胚胎和诱导多能干细胞和特异性标记物和谷胱结合。附属组织包括睾丸和淋巴结,相关表型为内分泌/外分泌腺。 Intermediate Malignant Teratoma