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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
Isolated Congenital Breast Hypoplasia/aplasia
Alias:
Isolated Congenital Amastia
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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
孤立性先天性乳腺发育不良/发育不全,又称孤立性先天性无乳症,是指与乳房和/或乳头有关的发育不良或发育不全,1.与孤立性先天性乳腺发育不良/发育不全有关的重要基因是PTPRF(酪氨酸磷酸酶受体F型)。附属组织包括乳腺。
Related ID:
MALACARDS:ISL100
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
1
5
--
ISL100
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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