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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
Fissured Tongue
Alias:
Furrowed Tongue
Tongue, Fissured
Plicated Tongue
Geographic Tongue and Fissured Tongue
Fissure of Tongue, Congenital
Congenital Fissure of Tongue
Congenital Plicated Tongue
Fissure of Tongue
Lingua Plicata
Scrotal Tongue
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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
裂纹舌,又称沟纹舌,与梅克尔-罗森塔尔综合症和远端型关节挛缩症5d有关,症状包括舌痛。与裂纹舌相关的重要基因是NSD2(核受体结合SET域蛋白2),其相关通路/超级通路包括心脏传导和肌纤维收缩通路。相关组织包括舌和肝,相关表型包括shRNA丰度增加(Z-score>2)和心血管系统。
Related ID:
MALACARDS:FSS001
MESH:D014063
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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13
94
--
FSS001
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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