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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
Fibrodysplasia Ossificans Progressiva (FOP)
Alias:
Myositis Ossificans Progressiva
Progressive Myositis Ossificans
Fop
Myositis Ossificans
Progressive Ossifying Myositis
Stone Man Syndrome
Man of Stone
Acvr1-Related Fibrodysplasia Ossificans Progressiva
Myositis Ossificans Progressiva, Site Unspecified
Fop - [fibrodysplasia Ossificans Progressiva]
Progressive Myositis Ossificans Calcification
Diffuse Progressive Ossifying Polymyositis
Fibrodysplasia Ossificans Congenita
Myositis Ossificans Progressive
Münchmeyer Disease
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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
纤维肌发育不良性骨化症,也称为进行性肌炎骨化症,与骨异形症、进行性和强直有关。与纤维肌发育不良性骨化症相关的基因是ACVR1(激活素A受体1),其相关通路/超级通路包括ERK信号通路和信号转导通路。在该疾病的背景下提到了药物Pharmaceutical Solutions和Immunoglobulins。附属组织包括骨和骨骼肌,相关表型为异常脊柱形态和脊柱僵硬。
Related ID:
MALACARDS:FBR011
OMIM:135100
MESH:D009221
ICD11:2102976705
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
<1/1000000
32
350
69
FBR011
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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