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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
Dk Phocomelia Syndrome
Alias:
Von Voss-Cherstvoy Syndrome
Phocomelia-Thrombocytopenia-Encephalocele-Urogenital Malformations Syndrome
Phocomelia, Thrombocytopenia, Encephalocele, Urogenital Malformations
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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
Dk Phocomelia Syndrome(Dk-Phocomelia 综合征),又称 von Voss-Cherstvoy 综合征,与 Tetralogy of Fallot(法洛四联症)和认知功能1、社交功能有关。相关组织包括大脑和胸腺,相关表型包括血小板减少症和脑膨出。
Related ID:
MALACARDS:DKP001
OMIM:223340
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
--
--
5
DKP001
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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