Thakker-Donnai Syndrome

Alias:
Dysmorphism-Multiple Structural Anomalies Syndrome
Thakker Donnai 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
Thakker-Donnai 综合征,又称为畸形-多结构异常综合征,与面部畸形和多发畸形有关。附属组织包括小肠和胰腺,相关表型为短颈和肌张力低下
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
胎儿期
<1/1000000
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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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