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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
Non-Syndromic Unicoronal Craniosynostosis
Alias:
Non-Syndromic Anterior Synostotic Plagiocephaly
Non-Syndromic Frontoparietal Craniosynostosis
Non-Syndromic Unilateral Coronal Synostosis
Non-Syndromic Hemicoronal Craniosynostosis
Craniosynostosis, Nonsyndromic Unicoronal
Isolated Unicoronal Craniosynostosis
Isolated Frontal Plagiocephaly
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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
非综合征性单侧冠状缝颅缝早闭,又称非综合征性前颅缝早闭性偏头畸形,与斜视和颅缝早闭有关。与非综合征性单侧冠状缝颅缝早闭相关的基因是FGFR2(成纤维细胞生长因子受体2)。相关组织包括骨。
Related ID:
MALACARDS:NNS146
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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1
45
1
NNS146
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
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
Year
IF
No Data Found!
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