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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
Short Tarsus with Absence of Lower Eyelashes (STALE)
Alias:
Short Tarsus-Absence of Lower Eyelashes Syndrome
Lopes-Gorlin Syndrome
Lopes Gorlin Syndrome
Stale
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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
短跗骨伴下睫毛缺失,又称短跗骨-下睫毛缺失综合征,与三甲胺尿症和移植后急性边缘叶脑炎有关。附属组织包括心脏和前列腺,相关表型为下睫毛缺失和下睑发育不全。
Related ID:
MALACARDS:SHR097
OMIM:600269
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
<1/1000000
--
--
1
SHR097
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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