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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
Mitral Valve Prolapse 1 (MVP1)
Alias:
Mitral Valve Prolapse, Myxomatous 1
Myxomatous Mitral Valve Prolapse 1
Familial Mitral Valve Prolapse
Mitral Valve Prolapse, Familial, X-Linked
Myxomatous Valvular Disease, Familial
Mitral Valve Prolapse, Familial
Mitral Regurgitation, Familial
Mitral Valve Prolapse Syndrome
Mvp Prolapsed Mitral Valve
Click-Murmur Syndrome
Floppy Mitral Valve
Barlow Syndrome
Mmvp1
Mvp1
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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
二尖瓣脱垂1,也称为二尖瓣脱垂、黏液样1,与直立性低血压和微小眼症、综合征2有关,症状包括心绞痛、胸痛和水肿。与二尖瓣脱垂1相关的基因是DCHS1(Dachsous Cadherin-Related 1)。相关组织包括心脏和眼睛,相关表型为高腭和高、窄腭。
Related ID:
MALACARDS:MTR080
OMIM:157700
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
7
38
MTR080
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
Function
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Mutations
No data available
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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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