登录|免费注册
中文Deafness, X-Linked 2 (DFNX2)
X-连锁耳聋2型(来自ICD-11)
别称:
Nance Deafness
Perilymphatic Gusher-Deafness Syndrome
Dfnx2
Dfn3
Sensorineural Deafness, Profound, with or Without a Conductive Component, Associated with a Unique Developmental Abnormality of the Ear
X-Linked Mixed Hearing Loss with Perilymphatic Gusher
X-Linked Mixed Conductive and Sensorineural Deafness
X-Linked Mixed Conductive and Neurosensory Deafness
Deafness 3, Conductive, with Stapes Fixation
Deafness, Conductive, with Stapes Fixation
Deafness, Mixed, with Perilymphatic Gusher
X-Linked Deafness 2
X-Linked Mixed Conductive and Sensorineural Hearing Loss
X-Linked Mixed Conductive and Neurosensory Hearing Loss
Deafness Mixed with Perilymph Gusher X-Linked
Conductive Deafness 3 with Stapes Fixation
Deafness 3 Conductive with Stapes Fixation
Conductive Deafness with Stapes Fixation
Mixed Deafness with Perilymphatic Gusher
Deafness Conductive with Stapes Fixation
Deafness Mixed with Perilymphatic Gusher
Progressive Hearing Loss Stapes Fixation
X-Linked Sensorineural Deafness
X-Linked Stapes Gusher Syndrome
Deafness, X-Linked, Type 2
X-Linked Deafness Type 2
Deafness, X-Linked, 2
加入收藏
先天性非综合征性听力损失，也称为南恩聋，与先天性X连锁听力损失1和非综合征性听力损失有关。与先天性X连锁听力损失2有关的重要基因是POU3F4（POU类3同源盒4），其相关通路/超级通路包括磷酸戊糖途径和PRPP生物合成。附属组织包括骨和脑，相关表型包括扩张的内耳导水管和先天性感觉神经性听力损失。
查看原文 参与反馈
相关ID：
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
疾病表征
#
分类
表征
HPO概率
Orphanet概率
HPO来源
基因 & 突变
#
基因
作用分类
分值
突变数量
靶点药物
药物名称
CAS号
研发状态
临床阶段
疾病模型
类型
名称
MGI
相关基因
品系来源
文献数量
文献报道
标题
PMID
期刊
年代
IF
