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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
Anodontia
Alias:
Total Anodontia of Permanent and Deciduous Teeth
Developmental Absence of Tooth
Complete Absence of Teeth
Complete Developmental Absence of Teeth
Congenital Complete Absence of Teeth
Congenital Partial Absence of Teeth
Congenital Absence of Teeth
Partial Absence of Teeth
Congenital Edentia
Partial Anodontia
Absence of Teeth
Absent Teeth
Agomphiasis
Agomphosis
Anodontism
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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
Anodontia,也被称为永久性和乳牙的完全无牙症,与11a型外胚层发育不良、常染色体显性、无汗/毛/牙型和11b型外胚层发育不良、常染色体隐性有关。与Anodontia相关的基因是PAX9(Paired Box 9),其相关通路/超通路包括信号转导和免疫系统的细胞因子信号通路。在该疾病的背景下,已提到的药物有布洛芬和氢化可的松。相关组织包括皮肤和骨骼,相关表型包括生长/大小/身体部位和四肢/手指/尾巴。
Related ID:
MALACARDS:AND001
MESH:D000848
ICD11:413433873
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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15
141
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AND001
Medical Symptom
#
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
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Year
IF
No Data Found!
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