Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21.[supplied by OMIM, Apr 2005]
唐氏综合症,引起的微观上可证明染色体畸变精神发育迟缓的最常见的形式中,其特征在于明确定义和独特的表型特征和自然历史。它是由所有的一式三份的状态(三体)或21号染色体的关键部分引起[由OMIM,2005年4月供给]
DCR基因(以及对应的蛋白质)的细胞分布位置:
DCR基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Down Syndrome | 0.121085767 | 4 | 0 | BeFree_CTD_human |
Mental Retardation | 0.000542884 | 2 | 0 | BeFree |
Dysmorphic features | 0.000271442 | 1 | 0 | BeFree |
Cerebral Infarction | 0.000271442 | 1 | 0 | BeFree |
Abnormal dermatoglyphic pattern | 0.000271442 | 1 | 0 | BeFree |
Sepsis | 0.000271442 | 1 | 0 | BeFree |
Septicemia | 0.000271442 | 1 | 0 | BeFree |
Cerebrovascular accident | 0.000271442 | 1 | 0 | BeFree |
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