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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
Distal Deletion 9p
Alias:
Distal Monosomy 9p
9p Partial Monosomy Syndrome
Distal Monosomy 9p Syndrome
Telomeric Deletion 9p
Monosomy 9pter
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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
9p远端缺失,又称为9p远端单体型,与额间距增宽和唐氏综合症有关。相关表型包括智力障碍和短颈
Related ID:
MALACARDS:DST112
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
<1/1000000
--
--
--
DST112
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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