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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Ciliary Dyskinesia, Primary, 12 (CILD12)
Alias:
Primary Ciliary Dyskinesia 12
Cild12
Primary Ciliary Dyskinesia 12 Without Situs Inversus
Ciliary Dyskinesia, Primary, 12, Without Situs Inversus
Dyskinesia, Ciliary, Primary, Type 12
Immotile Cilia Syndrome 12
Ics12
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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,12型,也称为原发性纤毛运动障碍12型,与原发性纤毛运动障碍有关。Ciliary Dyskinesia, Primary, 12相关的基因是RSPH9(径向小梁头部成分9)。相关组织包括睾丸和肺,相关表型为精子运动能力降低和慢性鼻炎。
Related ID:
MALACARDS:CLR054
OMIM:612650
MESH:D007619
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
2
11
6
CLR054
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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