Nonphotosensitive Trichothiodystrophy

Alias:
Trichothiodystrophy Nonphotosensitive
Amish Brittle Hair Brain 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
非光敏性毛发硫化症,又名非光敏性毛发硫化症,与毛发硫化症6、非光敏性和毛发硫化症有关。与非光敏性毛发硫化症有关的重要基因是MPLKIP(M-Phase Specific PLK1 Interacting Protein)。附属组织包括大脑。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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8
29
8

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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