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疾病英文名:HNT - Hairy Nose Tip 疾病分类:罕见病 其它疾病 其他别名:Hnt 疾病简介:毛鼻尖基因,也称为hnt,与畸胎瘤和肌萎缩侧索硬化症1有关。相关表型为…
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皮质类固醇结合球蛋白缺乏症,也称为转皮质蛋白缺乏症,与慢性疲劳综合症和垂体依赖性库欣病有关,其症状包括疲劳和全身性疲劳。与皮质类固醇结合球蛋白缺乏症有关的重要基因是SERPINA6(丝氨酸蛋白酶家族A成员6),其相关通路/超级通路包括类固醇代谢和糖皮质激素受体调节网络。附属组织包括肾上腺和肝脏,相关表型包括低血压和低钾血症。 CBG DEFICIENCY – Corticosteroid-Binding Globulin Deficiency
智力发育障碍,X连锁41,也被称为精神发育迟滞,X连锁48,与非综合征性X连锁智力障碍41和非综合征性X连锁智力障碍有关。与智力发育障碍,X连锁41有关的重要基因是GDI1(GDP解离抑制剂1)。附属组织包括大脑,相关表型为智力障碍,轻度和智力障碍,严重。 XLID41 – Intellectual Developmental Disorder, X-Linked 41
脂皮病,也称为下肢硬化性筋膜炎,与静脉功能不全和蜂窝织炎有关。在该疾病的背景下,提到了铜和微量元素。附属组织包括皮肤和内皮。 Lipodermatosclerosis
Loose Anagen Hair Syndrome, also known as loose anagen syndrome, is related to noonan syndrome-like disorder with loose anagen hair and uncombable hair syndrome 1. An important gene associated with Loose Anagen Hair Syndrome is KRT75 (Keratin 75), and among its related pathways/superpathways are Nervous system development and Keratinization. Affiliated tissues include skin and bone marrow, and related phenotypes are abnormal hair whorl and iris coloboma. LAHS – Loose Anagen Hair Syndrome
2型糖尿病3型,也称为非胰岛素依赖型糖尿病3型,与2型糖尿病和酮症倾向型糖尿病有关。附属组织包括内皮组织。 T2D3 – Type 2 Diabetes Mellitus 3