Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis (BANDDOS)

Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis(来自ICD-11)
别称:
Banddos
Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis, also known as banddos, is related to leukoencephalopathy, hereditary diffuse, with spheroids 1 and dysosteosclerosis. An important gene associated with Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis is CSF1R (Colony Stimulating Factor 1 Receptor). Affiliated tissues include brain and bone, and related phenotypes are cerebral calcification and ventriculomegaly
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
AR
Unknown
<1/1000000
1
17
6

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