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
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
6
40
15

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

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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