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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
Holoprosencephaly 2 (HPE2)
Alias:
Hpe2
Holoprosencephaly-2
Holoprosencephaly, Type 2
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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
全前脑畸形2,也称为hpe2,与全前脑畸形6和全前脑畸形1有关,症状包括癫痫发作。与全前脑畸形2有关的重要基因是SIX3(SIX同源盒3)。附属组织包括大脑和垂体,相关表型为全球发育延迟和狭颅症。
Related ID:
MALACARDS:HLP024
OMIM:157170
MESH:C563579
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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8
49
25
HLP024
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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