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:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
2
6
4

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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