Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome

Alias:
Epiphyseal Dysplasia-Deafness-Dysmorphism Syndrome
Finucane-Kurtz-Scott 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
软骨发育不全-听力损失-畸形综合征,也称为软骨发育不全-耳聋-畸形综合征。附属组织包括皮肤和肾脏,相关表型为智力障碍和癫痫
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
<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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