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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
Leukodystrophy, Hypomyelinating, 17 (HLD17)
Alias:
Hld17
Hypomyelinating Leukodystrophy 17
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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
白质营养不良症,低髓性17型,也称为hld17,与低髓性白质营养不良症和白质营养不良症有关。与白质营养不良症,低髓性17型相关的重要的基因是AIMP2(氨基酸酰tRNA合成酶复合物相互作用多功能蛋白2)。附属组织包括脊髓和大脑皮层,相关表型为癫痫和高反射。
Related ID:
MALACARDS:LKD030
OMIM:618006
MESH:D020279
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
2
6
2
LKD030
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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