Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome

Alias:
Froster-Huch Syndrome
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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
横膈膜缺损-肢体缺陷-颅骨缺损综合症,也被称为弗罗斯特-胡克综合症。附属组织包括肺,相关表型为第五手指的临床掌屈和先天性膈疝
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
<1/1000000
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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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