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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
非罕见病
Neurodevelopmental Disorder with Poor Growth and Behavioral Abnormalities (NEDGBA)
Alias:
Nedgba
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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
神经发育障碍伴生长不良和行为异常,也称为nedcba。与神经发育障碍伴生长不良和行为异常有关的重要基因是ATP9A(ATPase Phospholipid Transporting 9A(推测))。相关表型为生长发育不良、恶心和呕吐。
Related ID:
MALACARDS:NRD185
OMIM:620242
MESH:D065886
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
8
3
NRD185
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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