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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
非罕见病
Robinow-Sorauf Syndrome (RSS)
Alias:
Craniosynostosis-Bifid Hallux Syndrome
Acrocephalosyndactyly, Robinow-Sorauf Type
Acrocephalosyndactyly Robinow-Sorauf Type
Robinow Sorauf Syndrome
Rss
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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
罗宾诺-索拉夫综合症,又称颅缝早闭-双趾症,与萨瑟-肖特赞综合症和颅缝早闭有关。罗宾诺-索拉夫综合症相关的重要基因是TWIST1(扭曲家族BHLH转录因子1)。相关表型是下斜眼裂和宽趾症。
Related ID:
MALACARDS:RBN013
OMIM:180750
MESH:D000168
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
13
6
RBN013
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
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
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IF
No Data Found!
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