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疾病英文名:Hernia, Anterior Diaphragmatic 疾病分类:罕见病 致命性疾病 骨骼肌类疾病 其他别名: 疾病简介:腹股沟疝,前腹膜裂孔相关表型是先天性膈疝…
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松驰型皮肤,常染色体隐性,类型IIIA,也被称为ALDH18A1相关De Barsy综合症,与松驰型皮肤,常染色体隐性,类型IIIB和松驰型皮肤,常染色体隐性,类型IIA有关,其症状包括手足徐动症、癫痫和鬼脸。与松驰型皮肤,常染色体隐性,类型IIIA相关的基因是ALDH18A1(醛脱氢酶18家族成员A1),其相关通路/超级通路包括L-精氨酸代谢的超级通路和氨基酸代谢。相关组织包括皮肤和眼睛,相关表型包括智力障碍和白内障。 ARCL3A – Cutis Laxa, Autosomal Recessive, Type Iiia
肱二头肌腱鞘炎与腱鞘炎和肌腱炎有关。与肱二头肌腱鞘炎有关的重要基因是POLR1D(RNA聚合酶I和III亚基D)。关联组织包括骨骼,相关表型是帕博西尼(一种抗癌药物)致细胞活力降低。 Bicipital Tenosynovitis
先天性糖基化障碍,类型 Ir,也称为先天性糖基化障碍类型 ir,与先天性糖基化障碍类型 in 和肌张力低下有关,症状包括便秘。与先天性糖基化障碍,类型 Ir 有关的重要基因是 DDOST(Dolichyl-Diphosphooligosaccharide–Protein Glycosyltransferase Non-Catalytic Subunit)。附属组织包括肝脏和皮肤,相关表型为癫痫发作和发育不良。 CDG1R – Congenital Disorder of Glycosylation, Type Ir
扩张型心肌病10型,也称为扩张型心肌病10型,与扩张型心肌病和孤立性永久性新生儿糖尿病有关。与扩张型心肌病10型有关的重要基因是ABCC9(ATP结合盒家族C成员9),其相关通路/超级通路包括无机离子/酸的运输和氨基酸/寡肽的传输以及化学突触的传输。附属组织包括心脏和皮肤,相关表型包括充血性心力衰竭和扩张型心肌病。 CMD1O – Cardiomyopathy, Dilated, 1o
Enthesopathy, also known as rheumatism, is related to diffuse idiopathic skeletal hyperostosis and arthropathy, and has symptoms including myalgia, joint symptom and musculoskeletal symptom. An important gene associated with Enthesopathy is PHEX (Phosphate Regulating Endopeptidase X-Linked), and among its related pathways/superpathways are Endochondral ossification and Allograft rejection. The drugs Bupivacaine and Anesthetics, Local have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow, and related phenotypes are homeostasis/metabolism and growth/size/body region. Enthesopathy