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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 18q Deletion Syndrome
Alias:
18q- Syndrome
Monosomy 18q
Deletion of Long Arm of Chromosome 18
18q Deletion Syndrome
Deletion 18q
Chromosome 18q- Syndrome
Del Syndrome
Chromosome 18 Long Arm Deletion Syndrome
Chromosome 18 Deletion Syndrome
Distal 18q Deletion Syndrome
Chromosome 18q Monosomy
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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
18q缺失综合症,也称为18q-综合症,与近端18q缺失综合症和近端18q缺失综合症有关,症状包括癫痫和震颤。与18q缺失综合症有关的重要基因是DEL18Q(18q缺失综合症)。附属组织包括眼睛和心脏,相关表型为智力障碍和全球发育延迟。
Related ID:
MALACARDS:CHR382
OMIM:601808
MESH:C536580
ICD11:1121828795
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
胎儿期
--
11
51
28
CHR382
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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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