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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
Distal Monosomy 7q36
Alias:
Telomeric Deletion 7q36
Distal Deletion 7q36
Monosomy 7qter
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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
7q36远端单体型,又称为7q36端粒缺失,与小头畸形和凝血因子十二缺乏症有关。相关表型为大脸和短颈
Related ID:
MALACARDS:DST038
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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胎儿期
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DST038
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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