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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 and Chorioretinopathy, Autosomal Recessive, 3 (MCCRP3)
Alias:
Mccrp3
Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 3
Microcephaly and Chorioretinopathy 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
小头畸形和视网膜色素变性3,也称为mccrp3,与小头畸形3和小头畸形有关。与小头畸形和视网膜色素变性3相关的基因是TUBGCP4(微管γ复合体成分4),其相关通路/超通路包括细胞周期、有丝分裂。相关组织包括视网膜,相关表型为异常面部形状和眼震。
Related ID:
MALACARDS:MCR272
OMIM:616335
MESH:D008831
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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2
19
1
MCR272
Medical Symptom
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Description
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Orphanet Frequency
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No data available
Gene & Mutation
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No data available
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Name
MGI
Related Gene
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