Normosmic Congenital Hypogonadotropic Hypogonadism (NIHH)

Normosmic Congenital Hypogonadotropic Hypogonadism(来自ICD-11)
别称:
Normosmic Idiopathic Hypogonadotropic Hypogonadism
Nihh
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Normosmic Congenital Hypogonadotropic Hypogonadism, also known as normosmic idiopathic hypogonadotropic hypogonadism, is related to hypogonadotropic hypogonadism 2 with or without anosmia and hypogonadotropic hypogonadism 23 with or without anosmia. An important gene associated with Normosmic Congenital Hypogonadotropic Hypogonadism is CHD7 (Chromodomain Helicase DNA Binding Protein 7), and among its related pathways/superpathways are GPCR downstream signalling and Signal Transduction. Affiliated tissues include pituitary and ovary, and related phenotypes are delayed skeletal maturation and cryptorchidism
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
XL
XLD
AR
Newborn
--
18
208
--

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