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疾病英文名:MGC1 - Megalocornea 疾病分类:罕见病 眼科疾病 致命性疾病 其他别名:Isolated Congenital Megalocornea Congen…
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小头畸形19型,原发性,常染色体隐性,也称为mcph19,与小头畸形17型,原发性,常染色体隐性和小头畸形3型,原发性,常染色体隐性有关。与小头畸形19型,原发性,常染色体隐性相关的关键基因是COPB2(COPI包被复合物亚基β2),其相关通路/超级通路包括细胞周期、有丝分裂和细胞周期_前期染色体凝缩。附属组织包括大脑和皮质,相关表型包括痉挛和小头畸形。 MCPH19 – Microcephaly 19, Primary, Autosomal Recessive
Hypochondrogenesis, also known as achondrogenesis type II/hypochondrogenesis, is related to spondyloepiphyseal dysplasia with congenital joint dislocations and achondrogenesis, type II, and has symptoms including enlarged abdomen. An important gene associated with Hypochondrogenesis is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include bone and vertebral column, and related phenotypes are Increased gamma-H2AX phosphorylation and homeostasis/metabolism. Hypochondrogenesis
Amelia与四肢Amelia、臂部Amelia、唇裂和全脑裂有关。与Amelia有关的重要基因是TBX4(T-Box转录因子4)。附属组织包括骨和乳腺,相关表型是四肢/手指/尾巴。 Amelia
也被称为静脉性盖伦动脉瘤,与血管疾病和动静脉畸形有关。附属组织包括心脏和大脑。 VGAM – Vein of Galen Aneurysm
13号染色体母源性单亲二倍体,也称为mat(13),与史密斯-马根综合症和母源性单亲二倍体有关。 Maternal Uniparental Disomy of Chromosome 13