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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
非罕见病
Ectodermal Dysplasia and Immunodeficiency 2 (EDAID2)
Alias:
Edaid2
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency Autosomal Dominant
Ectodermal Dysplasia, Hypohidrotic, with Immunodeficiency 2
Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency 2
Ectodermal Dysplasia Hypohidrotic with Immunodeficiency
Dysplasia, Ectodermal, and Immunodeficiency, Type 2
Hed-Id
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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
表皮发育不良和免疫缺陷2,也称为edaid2,与表皮发育不良和免疫缺陷以及表皮发育不良10b,无汗/毛/牙型,常染色体隐性有关。与表皮发育不良和免疫缺陷2有关的重要基因是NFKBIA(NFKB抑制因子α)。附属组织包括肝脏和肺部,相关表型为生长发育不良和脾肿大
Related ID:
MALACARDS:ECT109
OMIM:612132
MESH:D004476
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
6
40
15
ECT109
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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