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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
Knuckle Pads
Alias:
Garrod Pads
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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
Knuckle Pads,又称Garrod pads,与掌跖角化病、耳聋和掌跖角化病有关。与Knuckle Pads有关的重要基因是KRT9(角蛋白9)。附属组织包括皮肤,相关表型为骨骼系统异常和皮下结节
Related ID:
MALACARDS:KNC002
OMIM:149100
ICD11:1824875472
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
3
23
3
KNC002
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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