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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
Dentin Dysplasia (DD)
Alias:
Dentinal Dysplasia
Dysplasia, Dentin
Shell Teeth
Dd
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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
牙本质发育不全,也称为牙本质发育不全,与牙本质发育不全型I和牙本质生成不全1有关。与牙本质发育不全相关的基因是DSPP(牙本质涎磷蛋白),其相关通路/超通路包括细胞外基质组织和粘附斑。附属组织包括牙齿和骨骼,相关表型包括骨密度增加和异常牙釉质形态。
Related ID:
MALACARDS:DNT009
MESH:D003805
ICD11:1262020657
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
全年龄段
--
16
135
--
DNT009
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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