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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
Greig Cephalopolysyndactyly Syndrome (GCPS)
Alias:
Gcps
Polysyndactyly with Peculiars Skull Shape
Polysyndactyly with Peculiar Skull Shape
Greig Cephalo-Poly-Syndactyly Syndrome
Cephalopolysyndactyly, Greig Syndrome
Cephalopolysyndactyly Syndrome
Cephalopolysyndactyly
Aarskog Syndrome
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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
格雷格头手多指综合症,又称 gcps,与多指症、后轴型 a1 和颅缝早闭有关。与格雷格头手多指综合症相关的重要基因是 GLI3 (GLI 家族锌指 3),其相关通路/超级通路包括信号转导和类 A/1 (视杆受体样受体)。相关组织包括骨和皮肤,相关表型为巨脑和后轴型手多指。
Related ID:
MALACARDS:GRG001
OMIM:175700
MESH:C537300
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
胎儿期
1-9/1000000
20
214
66
GRG001
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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