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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
Anal Atresia, Hypospadias, and Penoscrotal Inversion
Alias:
Distal Monosomy 13q
Telomeric Deletion 13q
Distal Deletion 13q
13q32 Deletion
Deletion 13q32
Monosomy 13q32
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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
肛门闭锁、尿道下裂和阴囊内翻,也称为远端13q单体缺失,与小眼球、先天性巨结肠病有关。相关组织包括眼睛,相关表型包括眼距增宽和小头畸形。
Related ID:
MALACARDS:ANL024
OMIM:602553
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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4
ANL024
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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