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疾病英文名:FMPP - Precocious Puberty, Male-Limited 疾病分类:罕见病 内分泌类疾病 其他别名:Testotoxicosis Familial…
疾病英文名:JHB - Hypertrophy of the Breast, Juvenile 疾病分类:罕见病 生殖系统疾病 其他别名:Familial Juvenile Hyp…
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子宫混合上皮和间叶恶性肿瘤,也称为子宫混合上皮和间叶癌。 Malignant Mixed Epithelial and Mesenchymal Tumor of Corpus Uteri
局部性肥大性神经病,又称为洋葱卷病,与神经病和单神经病有关。 Localized Hypertrophic Neuropathy
遗传性痉挛性截瘫8型,常染色体显性,也称为遗传性痉挛性截瘫8型和常染色体隐性痉挛性截瘫20型,其症状包括尿急。与遗传性痉挛性截瘫8型,常染色体显性有关的重要基因是WASHC5(WASH复合物亚基5)。相关组织包括眼睛和脊髓,相关表型为巴宾斯基征和行走困难。 SPG8 – Spastic Paraplegia 8, Autosomal Dominant
红皮病,先天性,伴有掌跖角化病、脱发和高ige,也称为严重皮炎-多发性过敏-代谢性消耗综合症,与掌跖角化病和脱发有关。与红皮病,先天性,伴有掌跖角化病、脱发和高ige相关的基因是DSG1(Desmoglein 1),其相关通路/超级通路包括程序性细胞死亡和角化,相关组织包括皮肤和大脑,相关表型包括室间隔缺损和肺动脉狭窄。 EPKHE – Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige
Histoplasmosis, also known as darling disease, is related to African histoplasmosis and American histoplasmosis, and has symptoms including headache, nonproductive cough and loss of appetite. An important gene associated with Histoplasmosis is STAT1 (Signal Transducer And Activator Of Transcription 1), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Itraconazole and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include lung and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and nervous system. Histoplasmosis