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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
Palmoplantar Keratoderma, Punctate Type Ii (PPKP2)
Alias:
Porokeratosis Punctata Palmaris Et Plantaris
Punctate Palmoplantar Keratoderma Type 2
Ppkp2
Pppp
Punctate Palmoplantar Hyperkeratosis Type 2
Punctate Palmoplantar Keratoderma Type Ii
Keratoderma, Palmoplantar, Punctate Type Ii
Porokeratosis, Palmoplantar
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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
掌跖角化病,点状型II,又称掌跖点状角化病,与掌跖角化病,点状型IA和点状角化病有关。与掌跖角化病,点状型II相关的基因是BRCA1(BRCA1 DNA修复相关)。相关组织包括皮肤和T细胞,相关表型为点状角化病和掌跖棘状角化病。
Related ID:
MALACARDS:PLM163
OMIM:175860
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
<1/1000000
3
39
6
PLM163
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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