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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
Adams-Oliver Syndrome 2 (AOS2)
Alias:
Aos2
Adams-Oliver Syndrome, 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
Adams-Oliver Syndrome 2(aos2)也被称为Adams-Oliver综合症和挛缩、翼状胬肉和脊柱-掌骨-跖骨融合综合症1a有关,症状包括癫痫发作。与Adams-Oliver Syndrome 2相关的基因是DOCK6(细胞分裂促进因子6)。关联组织包括大脑和皮肤,相关表型为巨脑和斜视。
Related ID:
MALACARDS:ADM007
OMIM:614219
MESH:D004476
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
4
17
ADM007
Medical Symptom
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Description
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Gene & Mutation
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References Literature
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No Data Found!
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