Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome

Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome(来自ICD-11)
别称:
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Deafness-Rhizomelic Dysplasia Syndrome
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome, is also known as autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome. An important gene associated with Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome is COL11A1 (Collagen Type XI Alpha 1 Chain). Affiliated tissues include bone, and related phenotypes are cleft palate and micrognathia
查看原文 参与反馈

基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
AD
Antenatal
<1/1000000
1
4
--

疾病表征

#
分类
表征
HPO概率
Orphanet概率
HPO来源
暂无相关数据

基因 & 突变

#
基因
作用分类
分值
突变数量
暂无相关数据

靶点药物

药物名称
CAS号
研发状态
临床阶段
暂无相关数据

疾病模型

类型
名称
MGI
相关基因
品系来源
文献数量
暂无相关数据

文献报道

标题
PMID
期刊
年代
IF
暂无数据
Wechat
Comparison
Al agent
Tutorials
Back to top