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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
Weill-Marchesani Syndrome 4 (WMS4)
Alias:
Weill-Marchesani 4 Syndrome, Recessive
Weill-Marchesani-Like Syndrome
Wms4
Wmsl
Ichthyosis-Short Stature-Brachydactyly-Microspherophakia Syndrome
15q26.3 Microdeletion Syndrome
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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
Weill-Marchesani Syndrome 4,也被称为Weill-Marchesani 4综合征,隐性,与Weill-Marchesani综合征和短指症有关。与Weill-Marchesani Syndrome 4相关的基因是ADAMTS17(ADAM金属肽酶与血小板反应蛋白1型motif 17)。附属组织包括皮肤和眼睛,相关表型为高度近视和浅前房。
Related ID:
MALACARDS:WLL040
OMIM:613195
MESH:D004392
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
2
6
4
WLL040
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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