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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
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Alias:
Mathieu-De Broca-Bony Syndrome
Cleft Palate Short Stature Vertebral Anomalies Syndrome
Cleft Palate Short Stature Vertebral Anomalies
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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
唇裂-身材矮小-脊柱异常综合症,也被称为马蒂厄-德布鲁卡-骨质异常综合症。相关表型为智力障碍和短颈
Related ID:
MALACARDS:CLF062
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
<1/1000000
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--
--
CLF062
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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