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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
Methylmalonic Acidemia Without Homocystinuria
Alias:
Methylmalonic Aciduria Without Homocystinuria
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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
甲基丙二酸血症伴高同型半胱氨酸尿症,也称为甲基丙二酸血症伴高同型半胱氨酸尿症。附属组织包括乳腺。
Related ID:
MALACARDS:MTH046
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X隐
常隐
常显
X染色体
全年龄段
<1/1000000
--
--
--
MTH046
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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