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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
Microcephaly 3, Primary, Autosomal Recessive (MCPH3)
Alias:
Mcph3
Microcephaly, Primary Autosomal Recessive, 3
Primary Autosomal Recessive Microcephaly 3
Microcephaly, Type 3, Autosomal Recessive
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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
微小头畸形3型,常染色体隐性遗传,也称为mcph3,与微小头畸形和原发性小头畸形有关。与微小头畸形3型,常染色体隐性遗传有关的重要基因是CDK5RAP2(CDK5调节亚基相关蛋白2)。相关组织包括皮质和大脑,相关表型为全球发育延迟和牙齿间距广泛。
Related ID:
MALACARDS:MCR248
OMIM:604804
MESH:D008831
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
4
23
11
MCR248
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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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
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IF
No Data Found!
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