Blepharocheilodontic Syndrome 1 (BCDS1)

睑唇齿综合征1型(来自ICD-11)

别称:

Blepharocheilodontic Syndrome

Elschnig Syndrome

Bcd Syndrome

Blepharo-Cheilo-Odontic Syndrome

Ectropion, Inferior, with Cleft Lip and/or Palate

Lagophthalmia with Bilateral Cleft Lip and Palate

Clefting, Ectropion, and Conical Teeth

Blepharo-Cheilo-Dontic Syndrome

Bcds

Ectropion Inferior-Cleft Lip and/or Palate Syndrome

Lagophthalmia-Cleft Lip and Palate Syndrome

Clefting-Ectropion-Conical Teeth Syndrome

Bcds1

Blepharocheilodontic Syndrome, Type 1

加入收藏

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Blepharocheilodontic Syndrome 1，也被称为Blepharocheilodontic Syndrome，与Blepharocheilodontic Syndrome 2和euryblepharon有关。与Blepharocheilodontic Syndrome 1相关的基因是CDH1（Cadherin 1），其相关通路/超通路包括Sertoli-Sertoli Cell Junction Dynamics和细胞连接组织。附属组织包括眼睛和甲状腺，相关表型为异常眼睑形态和双行睫毛

查看原文参与反馈