Ciliary Dyskinesia, Primary, 33 (CILD33)

Alias:
Primary Ciliary Dyskinesia 33
Cild33
Ciliary Dyskinesia, Primary, 33, Without Situs Inversus
Primary Ciliary Dyskinesia 33 Without Situs Inversus
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
纤毛运动障碍,原发性,33型,也被称为原发性纤毛运动障碍33型。与纤毛运动障碍,原发性,33型相关的基因是GAS8(生长停滞特异性8),其相关通路/超通路包括磷脂酶C通路和p70S6K信号通路。相关组织包括肺和睾丸,相关表型包括复发性中耳炎和复发性下呼吸道感染。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
5
28
3

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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