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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
Odontoonychodermal Dysplasia (OODD)
Alias:
Odonto-Onycho-Dermal Dysplasia
Oodd
Ectodermal Dysplasia 16, Hypo- or Hyperhidrotic/hair/tooth/nail Type
Ectd16
Tricho-Odonto-Onycho-Dermal Dysplasia
Dysplasia, Odontoonychodermal
Ectodermal Dysplasia 16
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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
牙齿-指甲-皮肤发育不良,也称为牙齿-指甲-皮肤发育不良,与选择性牙齿缺失和牙齿缺失有关。与牙齿-指甲-皮肤发育不良有关的重要基因是WNT10A(Wnt家族成员10A)。附属组织包括皮肤和舌头,相关表型为进行性指甲和短指甲。
Related ID:
MALACARDS:ODN009
OMIM:257980
MESH:D004476
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
<1/1000000
1
7
39
ODN009
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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