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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
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 (LGMDR3)
Alias:
Muscular Dystrophy, Limb-Girdle, Type 2d
Severe Childhood Autosomal Recessive Muscular Dystrophy
Lgmdr3
Lgmd2d
Dmda2
Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2
Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 2
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d
Dystrophy, Muscular, Limb-Girdle, Type 2d
Limb-Girdle Muscular Dystrophy 2d
Alpha-Sarcoglycanopathies
Adhalinopathy, Primary
Adhalinopathy Primary
Scarmd
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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
肌营养不良症,肢带型,常染色体隐性遗传3型,又称肌营养不良症,肢带型,2d型,与常染色体隐性肢带型肌营养不良症2d型和肌营养不良症,肢带型,常染色体隐性遗传5型有关。与肌营养不良症,肢带型,常染色体隐性遗传3型有关的重要基因是SGCA(肌糖原α)。相关组织包括骨骼肌和心脏,相关表型包括脊柱侧弯和充血性心力衰竭。
Related ID:
MALACARDS:MSC177
OMIM:608099
MESH:D049288
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
--
2
19
81
MSC177
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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