热门标签:
疾病英文名:Isolated Congenital Hypogonadotropic Hypogonadism 疾病分类:罕见病 内分泌类疾病 生殖系统疾病 其他别名:Isolat…
疾病英文名:BBS - Bardet-Biedl Syndrome 疾病分类:罕见病 内分泌类疾病 眼科疾病 其他别名:Bbs Biedl-Bardet Syndrome 疾病简介…
疾病英文名:HPE - Holoprosencephaly 疾病分类:罕见病 内分泌类疾病 眼科疾病 其他别名:Holoprosencephaly Sequence Hpe Hpe…
免费咨询基因检测相关问题
具有不同亚型混合特征的局部性皮肤型进行性鳞状红斑角化病 Localized Lichen Myxedematosus with Mixed Features of Different Subtypes
巨噬细胞肌炎,也称为mmf,与霉酚酸酯胚胎病和肌病有关。附属组织包括骨骼肌和大脑,相关表型为疲劳和发热 MMF – Macrophagic Myofasciitis
USH1F, also known as Usher syndrome type 1f, is associated with nonsyndromic hearing loss and dfnb1. The gene PCDH15 (Protocadherin Related 15) is a significant gene related to USH1F, and its related pathways/superpathways include Sensory processing of sound and Aminoglycoside Ototoxicity Pathway, Adverse Drug Reaction. The affiliated tissues are retina and eye, and the related phenotypes are motor delay and congenital sensorineural hearing impairment. USH1F – Usher Syndrome, Type if
遗传性痉挛性截瘫30型,也称为常染色体显性遗传性痉挛性截瘫30型,与神经病、遗传性感觉性IIIC型和痉挛性截瘫有关。与遗传性痉挛性截瘫30型有关的重要基因是KIF1A(Kinesin家族成员1A)。附属组织包括眼睛和大脑,相关表型为巴宾斯基征和步态不稳。 SPG30 – Hereditary Spastic Paraplegia 30
家族性高胆固醇血症,也称为高脂蛋白血症IIA,与家族性纯合子高胆固醇血症和高脂蛋白血症III有关。与家族性高胆固醇血症有关的重要基因是LDLR(低密度脂蛋白受体),其相关通路/超级通路包括无机离子/酸/氨基酸/寡肽的代谢和运输。在该疾病的背景下,已提到过肝素、牛肝素和克霉唑。附属组织包括肝脏和心脏,相关表型为自由胆固醇增加和LDL摄取增加。 FH – Familial Hypercholesterolemia