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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
Porokeratosis 3, Multiple Types (POROK3)
Alias:
Porokeratosis, Disseminated Superficial Actinic, 1
Porokeratosis 3, Disseminated Superficial Actinic Type
Porok3
Dsap1
Disseminated Superficial Actinic Porokeratosis 1
Porokeratosis, Type 3, Multiple Types
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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
3型多型性多孔角化病,又称多孔角化病、散在性表浅性日光性皮炎1型,与多孔角化病和4型多型性多孔角化病、散在性表浅性日光性皮炎有关。与3型多型性多孔角化病相关的基因是MVK(甲羟戊酸激酶)。相关组织包括皮肤和肺,相关表型包括指甲发育不良和多孔角化病。
Related ID:
MALACARDS:PRK080
OMIM:175900
MESH:D017499
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
1
4
83
PRK080
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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