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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
Weyers Acrofacial Dysostosis (WAD)
Alias:
Curry-Hall Syndrome
Weyers Acrodental Dysostosis
Acrofacial Dysostosis, Weyers Type
Acrodental Dysostosis of Weyers
Wad
Acrofacial Dysostosis Weyers Type
Dysostosis, Acrodental, Weyers
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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
威耶氏全颜面骨发育不全,又称咖喱-霍尔综合症,与埃利斯-范克雷夫综合症和麦克斯克-考夫曼综合症有关。与威耶氏全颜面骨发育不全有关的重要基因是EVC(EvC cilia复合体亚基1),其相关通路/超级通路包括信号转导和细胞器生物发生和维护。相关组织包括骨和皮肤,相关表型包括牙齿异常和趾甲发育不良。
Related ID:
MALACARDS:WYR002
OMIM:193530
MESH:C536695
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
--
35
196
45
WYR002
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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Score
Mutations
No data available
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Name
CAS Number
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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
Title
PMID
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IF
No Data Found!
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