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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
Triploidy
Alias:
Triploidy Syndrome
Triploid Syndrome
Triploid
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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
三倍体,也称为三倍体综合症,与葡萄胎、复发性1和妊娠滋养细胞肿瘤有关。与三倍体相关的基因是NLRP7(NLR家族Pyrin域含7)。附属组织包括胎盘和眼睛,相关表型为宽眼距和隐睾症
Related ID:
MALACARDS:TRP014
ICD11:1900317965
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
胎儿期
1-5/10000
3
13
--
TRP014
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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