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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
Ectropion
Alias:
Ectropion of Eyelid
Everted Margin
Unspecified Ectropion of Unspecified Eye
Eversion of the Eyelid
Eyelashes Turned out
Eyelid Turned out
Eyelid Everted
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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
翼状胬肉,又称外翻边缘,与眼睑唇裂综合症1和泛睑裂症有关。翼状胬肉相关的重要基因是TGM1(转谷氨酰胺酶1),其相关通路/超级通路包括代谢和粘附。在该疾病的背景下提到了药物肾上腺素和利多卡因。附属组织包括眼睛和皮肤,相关表型为稳态/代谢和生长/大小/身体部位
Related ID:
MALACARDS:ECT005
MESH:D004483
ICD11:857829804
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
20
183
--
ECT005
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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