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疾病英文名:Sclerocornea 疾病分类:罕见病 眼科疾病 致命性疾病 其他别名:Isolated Congenital Sclerocornea 疾病简介:硬角膜,也称为孤…
疾病英文名:Quadricuspid Aortic Valve 疾病分类:罕见病 心血管疾病 致命性疾病 其他别名: 疾病简介:四叶主动脉瓣与主动脉瓣关闭不全和主动脉瓣疾病有关。相…
疾病英文名:Bone Development Disease 疾病分类:罕见病 骨骼肌类疾病 致命性疾病 其他别名: 疾病简介:骨发育疾病与 shox 相关的矮小症和发育不良有关。…
疾病英文名:Chromosome 3p- Syndrome 疾病分类:罕见病 致命性疾病 其他别名:Partial Deletion of the Short Arm of Chr…
疾病英文名:Vein Disease 疾病分类:罕见病 心血管疾病 致命性疾病 其他别名:Disorder of Vein 疾病简介:静脉病,也被称为静脉障碍,与静脉功能不全和静脉…
疾病英文名:Cranial Nerve and Nuclear Aplasia 疾病分类:罕见病 致命性疾病 神经精神疾病 其他别名: 疾病简介:颅神经核缺如与先天性无瞳孔有关。 …
疾病英文名:Aniridia - Ptosis - Intellectual Disability - Familial Obesity 疾病分类:罕见病 眼科疾病 致命性疾病 其…
疾病英文名:OFC6 - Orofacial Cleft 6 疾病分类:罕见病 致命性疾病 其他别名:Orofacial Cleft 6, Susceptibility to Of…
疾病英文名:BMND2 - Bone Mineral Density Quantitative Trait Locus 2 疾病分类:罕见病 骨骼肌类疾病 致命性疾病 其他别名:B…
疾病英文名:SKDEAS - Skraban-Deardorff Syndrome 疾病分类:罕见病 致命性疾病 神经精神疾病 其他别名:Intellectual Disabili…
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马兰综合症,也称为马兰过度生长综合症,与过度生长综合症和索托斯综合症有关。与马兰综合症有关的重要基因是NFIX(核因子I X)。附属组织包括骨和眼,相关表型为加速骨骼成熟和大头症 MALNS – Malan Syndrome
Tarp Syndrome,也被称为Tarp,与先天性马蹄内翻足有关,伴有或不伴有长骨和/或镜像多趾和Pierre Robin综合症。与Tarp Syndrome相关的基因是RBM10(RNA结合域蛋白10),其相关通路/超级通路包括处理含帽内含子的前mRNA。相关组织包括心脏和舌头,相关表型包括房间隔缺损和马蹄内翻足。 TARPS – Tarp Syndrome
肾上腺增生,先天性,由于21-羟化酶缺乏,也称为21-羟化酶缺乏,与脂质性先天性肾上腺增生和肾上腺休息肿瘤有关。与先天性肾上腺增生,由于21-羟化酶缺乏有关的重要基因是CYP21A2(细胞色素P450家族21亚家族A成员2)。在该疾病的背景下,已提到氢化可的松-17-丁酸和地塞米松醋酸盐。附属组织包括肾上腺皮和睾丸,相关表型是循环皮质醇水平降低和循环17-羟孕酮水平升高。 AH3 – Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency
Papillorenal Syndrome, also known as renal coloboma syndrome, is related to focal segmental glomerulosclerosis 7 and coloboma of optic nerve. An important gene associated with Papillorenal Syndrome is PAX2 (Paired Box 2), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Neural Stem Cells and Lineage-specific Markers. The drugs Pembrolizumab and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include kidney and eye, and related phenotypes are renal insufficiency and optic nerve dysplasia. Papillorenal Syndrome, also known as renal coloboma syndrome, is related to focal segmental glomerulosclerosis 7 and coloboma of optic nerve. An important gene associated with Papillorenal Syndrome is PAX2 (Paired Box 2), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Neural Stem Cells and Lineage-specific Markers. The drugs Pembrolizumab and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include kidney and eye, and related phenotypes are renal insufficiency and optic nerve dysplasia. Papillorenal Syndrome, also known as renal coloboma syndrome, is related to focal segmental glomerulosclerosis 7 and coloboma of optic nerve. An important gene associated with Papillorenal Syndrome is PAX2 (Paired Box 2), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Neural Stem Cells and Lineage-specific Markers. The drugs Pembrolizumab and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include kidney and eye, and related phenotypes are renal insufficiency and optic nerve dysplasia. Papillorenal Syndrome, also known as renal coloboma syndrome, is related to focal segmental glomerulosclerosis 7 and coloboma of optic nerve. An important gene associated with Papillorenal Syndrome is PAX2 (Paired Box 2), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers PAPRS – Papillorenal Syndrome
阿克罗颅多指发育不良,也称为埃勒贾尔德综合症,与格里塞利综合症1型和埃勒贾尔德神经外胚层黑素溶酶体综合症有关,症状包括共济失调、癫痫和肌肉痉挛。附属组织包括骨骼和皮肤,相关表型为短颈和额部宽大。 Acrocephalopolydactylous Dysplasia