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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
Steinfeld Syndrome
Alias:
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly Radial Heart Renal 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
Steinfeld 综合症,也被称为全脑前叶-放射性心脏肾病综合症,与全脑前叶1和全脑前叶有关。附属组织包括心脏和视网膜,相关表型为小头畸形和全脑前叶。
Related ID:
MALACARDS:STN006
OMIM:184705
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
胎儿期
<1/1000000
--
--
1
STN006
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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