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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
Bifid Nose
Alias:
Congenital Notching of Tip of Nose
Fissured, Notched and Cleft Nose
Congenital Fissure of Nose
Congenital Notching Nose
Congenital Cleft Nose
Fissure of Nose
Cleft Nose
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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
双鼻孔,又称鼻尖先天性凹陷,与伴有或不伴有肛门直肠和肾异常的双鼻孔以及三尖头双鼻孔和肢端异常有关。与双鼻孔有关的重要基因是FREM1(FRAS1相关外周基质1)。附属组织包括皮肤和眼睛,相关表型为双鼻孔和宽眼距。
Related ID:
MALACARDS:BFD001
ICD11:1824850646
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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2
14
--
BFD001
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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