Familial Woolly Hair Syndrome

Alias:
Woolly Hair
Wooly Hair
Hereditary Woolly Hair Syndrome
Hereditary Wooly Hair Syndrome
Familial Wooly Hair Syndrome
Syndrome with Woolly Hair
Wooly Hair 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
家族性卷发症,又名卷发症,与7型和8型稀发症有关。与家族性卷发症有关的重要基因是LIPH(脂酶H),其相关通路/超通路包括神经系统发育和DREAM抑制和二氢吗啡酮表达。附属组织包括皮肤和心脏,相关表型为细发和卷发
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
新生儿
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46
418
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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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