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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
Split-Hand/foot Malformation 2 (SHFM2)
Alias:
Split Hand/foot Malformation 2
Split Hand-Foot Malformation 2
Shfm2
Split-Hand/split-Foot Anomaly, X-Linked
Split Hand Split Foot X Linked
Split-Hand/foot Deformity 2
Shfd2
Shsf2
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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
肢端发育不良2,也称为肢端发育不良2,与肢端发育不良和2q35染色体倍增综合症有关。肢端发育不良2的重要基因是SHFM2(肢端发育不良(外胚层发育不良)2型)。附属组织包括骨和前列腺,相关表型为手指和手指并指。
Related ID:
MALACARDS:SPL070
OMIM:313350
MESH:C574275
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X显
X染色体
X隐
未知
--
4
23
5
SPL070
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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