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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
非罕见病
Turnpenny-Fry Syndrome (TPFS)
Alias:
Neurocardioskeletal Syndrome
Tpfs
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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
Turnpenny-Fry 综合症,也被称为神经心肌骨骼综合症。与 Turnpenny-Fry 综合症相关的基因是 PCGF2(Polycomb Group Ring Finger 2)。相关组织包括大脑和骨骼,相关表型是特定学习障碍和萨提尔耳。
Related ID:
MALACARDS:TRN074
OMIM:618371
MESH:D000015
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
1
7
3
TRN074
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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