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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
Femur, Unilateral Bifid, with Monodactylous Ectrodactyly (GWC)
Alias:
Gollop-Wolfgang Complex
Bifid Femur-Monodactylous Ectrodactyly Syndrome
Femur Bifid with Monodactylous Ectrodactyly
Gwc
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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
股骨,单侧双骨,伴有单趾外胚层发育不全,也称为戈洛普-沃尔夫复合体,与胫骨半肢症和手足分裂畸形有关。与股骨,单侧双骨,伴有单趾外胚层发育不全相关的基因是BHLHA9(基本螺旋-环-螺旋家族成员A9)。附属组织包括骨和心脏,相关表型为双骨股骨和外胚层发育不全。
Related ID:
MALACARDS:FMR017
OMIM:228250
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
胎儿期
--
1
6
10
FMR017
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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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