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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
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Alias:
Lyngstadaas Syndrome
Steroid Dehydrogenase Deficiency Dental Anomalies
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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
皮质类固醇脱氢酶缺乏-牙发育异常综合征,又称林格斯塔达斯综合征。相关组织包括肝脏,相关表型为肝功能衰竭和额外牙齿
Related ID:
MALACARDS:STR114
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
<1/1000000
--
--
--
STR114
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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