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疾病英文名:Chorea, Remitting, with Nystagmus and Cataract 疾病分类:罕见病 其他别名:Familial Remitting Chor…
疾病英文名:Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogona…
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睾丸绒毛膜癌,也称为睾丸绒毛膜癌,与生殖细胞癌和混合生殖细胞癌有关。与睾丸绒毛膜癌相关的重要基因是AFP(α-胎儿蛋白),其相关通路/超级通路包括叶酸代谢和转运障碍以及甲氨蝶呤通路,药代动力学。在该疾病的背景下,已经提到了顺铂和博莱霉素。附属组织包括睾丸和淋巴结,相关表型是shRNA丰度增加(Z分数> 2)。 Choriocarcinoma of the Testis
22号染色体长臂11.2区重复综合症,也被称为22号染色体长臂11.2区微重复综合症,与心房间隔缺损和帕塔乌综合症有关。与22号染色体长臂11.2区重复综合症相关的重要基因是DUP22Q11.2(22号染色体长臂11.2区微重复综合症),其相关通路/超级通路包括22q11.2拷数变异综合症和各种运输和结合事件。相关组织包括心脏和胸腺,相关表型包括智力障碍和肌张力减低。 Chromosome 22q11.2 Duplication Syndrome
腹股沟疝,前腹膜裂孔相关表型是先天性膈疝。 Hernia, Anterior Diaphragmatic
Ciliary Dyskinesia, Primary, 41(原发性纤毛运动障碍41型)也被称为CILD41。与Ciliary Dyskinesia, Primary, 41相关的基因是GAS2L2(生长停滞特异性2类似物2)。相关表型包括复发性中耳炎和支气管扩张症。 CILD41 – Ciliary Dyskinesia, Primary, 41
Orofacial Cleft 1, also known as cleft lip with or without cleft palate, nonsyndromic, 1, is related to cleft lip with or without cleft palate and orofacial cleft. An important gene associated with Orofacial Cleft 1 is ACSS2 (Acyl-CoA Synthetase Short Chain Family Member 2). Affiliated tissues include tongue and brain, and related phenotypes are cleft palate and cleft upper lip. OFC1 – Orofacial Cleft 1