Waardenburg Syndrome, Type 3 (WS3)

Alias:
Waardenburg Syndrome Type 3
Klein-Waardenburg Syndrome
Ws3
Waardenburg Syndrome with Upper Limb Anomalies
Waardenburg Syndrome Type Iii
Waardenburg Syndrome with Limb Anomalies
White Forelock with Malformations
Waardenburg Syndrome, Type Iii
Waardenburg Syndrome 3
Klein's 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
瓦登伯格综合症3型,也称为瓦登伯格综合症3型,与瓦登伯格综合症4c和瓦登伯格综合症2c有关。与瓦登伯格综合症3型有关的重要基因是PAX3(配对盒3),其相关通路/超级通路包括神经嵴分化和黑素细胞发育和色素沉着。附属组织包括皮肤和眼睛,相关表型包括听力障碍和关节僵硬。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
新生儿
--
14
220
22

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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