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OMIM

  • 网络在线人类孟德尔遗传;人类孟德尔遗传在线;孟德尔人类遗传;人类孟德尔遗传数据库;人类孟德尔遗传学
OMIMOMIM
  1. Reorganizing Analysis of Genetic Research Materials Related to Tongue Diagnosis in OMIM

    OMIM中与舌诊相关的基因研究资料的整理分析

  2. How to find information about human genes and hereditary disorders with OMIM

    如何利用OMIM获取人类基因与遗传失调信息

  3. Create a web-enabled script that given a locus link ID returns all the gene polymorphisms , OMIM citations associated with that gene .

    建立一个web上使用的、一个地点链接的ID的脚本,可得到所有的基因多态、和那些基因相关的OMIM引文。

  4. Osteogenesis imperfecta ( OMIM 166200 ) is an autosomal dominant disorder characterized by bone fragility and abnormalities of connective tissue .

    成骨不全病(OMIM166200)是一种常染色体显性遗传病,其临床表现以骨折及结缔组织异常为特征。

  5. There are two methods for the disease phenotype similarity in this article . They are separately based on the vector space and based on the scene pattern . By the two methods we can obtain the similarity of disease phenotype in OMIM text .

    分别利用基于向量空间的疾病表型相似度挖掘方法、基于情景模式的疾病表型相似度挖掘方法,通过这两种方法得到OMIM文本中疾病表型的相似度。

  6. Background Familial benign chronic pemphigus or Hailey-Hailey disease ( HHD ; OMIM 169600 ) is a rare autosomal dominant cutaneous disorder characterized by recurrent vesicles and erosions mainly in intertriginous areas .

    研究背景:家族性慢性良性天疱疮,又称Hailey-Hailey病(HHD,OMIM169600)是一种罕见的常染色体显性遗传性皮肤病。

  7. Van der Woude syndrome ( VWS , OMIM 119300 ) is an autosomal dominant craniofacial disorder characterized by pits of the lower lip , hypodontia and cleft lip and / or cleft palate .

    范德伍兹综合征(VanderWoudesyndrome,VWS,OMIM119300)是一种常染色体显性遗传病。其特征是家族性下唇瘘复合唇裂或腭裂,1/4的患者伴有缺牙(Hypodontia)。