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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
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 (MDDGA11)
Alias:
Mddga11
Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies, Type a, 11
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A11
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, B3galnt2-Related
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease B3galnt2-Related
Dystrophy, Muscular, Dystroglycanopathy , Type A11
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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
肌营养不良-肌糖原病11型,也称为mddga11,与先天性肌营养不良-肌糖原病11型有关。与肌营养不良-肌糖原病11型相关的基因是B3GALNT2(β-1,3-N-乙酰半乳糖胺转移酶2)。相关组织包括眼睛和大脑。
Related ID:
MALACARDS:MSC167
OMIM:615181
MESH:D058494
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
2
10
12
MSC167
Medical Symptom
#
Categorization
Description
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Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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No data available
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Name
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No data available
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Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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No Data Found!
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