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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
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive (KIDAR)
Alias:
Ichthyosiform Erythroderma, Corneal Involvement, and Deafness
Kid Syndrome, Autosomal Recessive
Desmons Syndrome
Autosomal Recessive Keratitis-Ichthyosis-Deafness Syndrome
Kidar
Ichthyosiform Erythroderma, Corneal Involvement, Deafness
Ichthyosiform Erythroderma Corneal Involvement Deafness
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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
先天性角膜-鱼鳞病-耳聋综合征,又名鱼鳞病样红皮病、角膜病变和耳聋,与KID综合征和遗传性角膜炎有关,症状包括畏光。与先天性角膜-鱼鳞病-耳聋综合征,又名鱼鳞病样红皮病、角膜病变和耳聋有关的重要基因是AP1B1(Adaptor Related Protein Complex 1 Subunit Beta 1)。相关组织包括皮肤和骨髓,相关表型包括智力障碍和全球发育延迟。
Related ID:
MALACARDS:KRT078
OMIM:242150
MESH:D003638
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
4
10
KRT078
Medical Symptom
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Description
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No data available
Gene & Mutation
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No data available
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No data available
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MGI
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No Data Found!
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