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疾病英文名:OFC11 - Orofacial Cleft 11 疾病分类:罕见病 致命性疾病 其他别名:Ofc11 Cleft Lip with or Without Cleft…
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肱尺融合症,也称为肱尺融合症,与融合症和头颅增大、小耳畸形、面部裂隙综合症有关。与肱尺融合症相关的基因是ESCO2(建立姐妹染色单体同源性N-乙酰转移酶2),其相关通路/超级通路包括胎儿雄激素合成的替代通路。附属组织包括骨和眼,相关表型包括肘关节强直和肘关节脱位。 Humeroradial Synostosis
Handigodu关节病,又称脊柱外侧柱状发育不良,Handigodu型,与关节病有关。附属组织包括骨骼,相关表型为髋关节骨关节炎和髋关节疼痛 HJD – Handigodu Joint Disease
多关节挛先天性4,也称为Zain综合征,与多关节挛先天性4、神经性、胼胝体缺失和骨坏死有关。与多关节挛先天性4有关的重要基因是SCYL2(SCY1类似假激酶2)。 Arthrogryposis Multiplex Congenita-4
Orofacial Cleft 1, also known as cleft lip with or without cleft palate, nonsyndromic, 1, is related to cleft lip with or without cleft palate and orofacial cleft. An important gene associated with Orofacial Cleft 1 is ACSS2 (Acyl-CoA Synthetase Short Chain Family Member 2). Affiliated tissues include tongue and brain, and related phenotypes are cleft palate and cleft upper lip. OFC1 – Orofacial Cleft 1
先天性超瓣环状二尖瓣 Congenital Supravalvular Mitral Ring