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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
Lactose Intolerance, Adult Type
Alias:
Disaccharide Intolerance Iii
Hypolactasia, Adult Type
Nonpersistence of Intestinal Lactase
Lactase Persistence/nonpersistence
Lactose Intolerance Adult Type
Adult Lactase Deficiency
Lactose Intolerance
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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
乳糖不耐受,成人型,又称二糖不耐受,与乳糖酶缺乏、先天性乳糖不耐受有关,症状包括腹痛、腹泻和胀气。与乳糖不耐受,成人型有关的重要基因是MCM6(微小染色体维持复合体成分6)。在该疾病的背景下提到了酪蛋白和山梨醇。相关的组织包括小肠和结肠,相关的表型是腹痛和腹泻。
Related ID:
MALACARDS:LCT011
OMIM:223100
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
2
5
54
LCT011
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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