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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
Orofaciodigital Syndrome Vii (OFD7)
Alias:
Whelan Syndrome
Ofd7
Oral-Facial-Digital Syndrome, Type Vii
Ofds Vii
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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
Orofaciodigital Syndrome Vii,也被称为Wheeler综合征,与肛门闭锁和脑回隆起症有关。与Orofaciodigital Syndrome Vii相关的基因是TMEM216(跨膜蛋白216),其相关通路/超通路包括Bardet-Biedl综合征和Ciliopathies。
Related ID:
MALACARDS:ORF039
OMIM:608518
MESH:C563104
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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3
32
3
ORF039
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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Score
Mutations
No data available
Related Drugs
Name
CAS Number
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Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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Journal
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IF
No Data Found!
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