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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
Atrichia with Papular Lesions (APL)
Alias:
Papular Atrichia
Apl
Congenital Atrichia
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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
无毛症伴皮疹,又称皮疹性无毛症,与先天性全秃症和脱发有关。与无毛症伴皮疹有关的重要基因是HR(HR赖氨酸去甲基化酶和核受体共抑制因子),其相关通路/超通路包括神经系统发育和角质化。附属组织包括皮肤和甲状腺,相关表型为稀疏毛发和广泛性皮疹。
Related ID:
MALACARDS:ATR013
OMIM:209500
MESH:C565924
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
14
107
17
ATR013
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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