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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, Type Ii (DTDP2)
Alias:
Dtdp2
Anomalous Dysplasia of Dentin
Coronal Dentin Dysplasia
Dentin Dysplasia Type Ii
Pulpal Dysplasia
Pulp Stones
Dd-Ii
Dentin Dysplasia, Shields Type Ii
Dentin Dysplasia Shields Type Ii
Dentin Dysplasia, Coronal
Dysplasia, Dentin, Type 2
Dentin Dysplasia 2
Dental Pulp Stone
Denticles
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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,II型,也称为dtdp2,与牙本质生成不全和远端对趾症、微小牙、牙髓结石和窄的颧弓有关。与牙本质发育不全,II型相关的重要基因是DSPP(牙本质涎磷蛋白)。相关组织包括皮肤和唾液腺,相关表型包括蓟管状牙髓和仅限于恒牙的牙本质生成不全。
Related ID:
MALACARDS:DNT027
OMIM:125420
MESH:D003784
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
<1/1000000
1
8
12
DNT027
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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