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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
Chromosome 10q26 Deletion Syndrome
Alias:
Distal 10q Deletion Syndrome
Distal Monosomy 10q
Monosomy 10qter
Terminal Chromosome 10q26 Deletion Syndrome
Telomeric Deletion 10q
Distal Deletion 10q
10q26 Deletion Syndrome
Telomeric Deletion 10
10qter Deletion
Deletion 10qter
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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
10q26染色体缺失综合症,也称为远端10q缺失综合症,与非远端10q缺失和法布里病有关,症状包括癫痫发作和鼻翼扩张。与10q26染色体缺失综合症有关的重要基因是DEL10Q26(10q染色体缺失综合症)。附属组织包括睾丸和肾脏,相关表型为智力障碍和全球发育延迟。
Related ID:
MALACARDS:CHR377
OMIM:609625
MESH:C567182
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
胎儿期
<1/1000000
5
27
11
CHR377
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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