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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
非罕见病
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 (MPPH3)
Alias:
Mpph3
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome, Type 3
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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
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3,也被称为MPPH3。与MPPH3相关的基因是CCND2(细胞周期蛋白D2)。相关组织包括肝脏和大脑,相关表型包括巨脑和全球发育延迟。
Related ID:
MALACARDS:MGL029
OMIM:615938
MESH:D006849
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
5
2
MGL029
Medical Symptom
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No data available
Gene & Mutation
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Publications
No data available
References Literature
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No Data Found!
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