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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
Down Syndrome
Alias:
Trisomy 21
Complete Trisomy 21 Syndrome
Trisomy 21 Syndrome
Complete Trisomy 21
Down's Syndrome
Down Syndrome, Susceptibility to
Down's Syndrome - Trisomy 21
Chromosome 21 Trisomy
Abnormal Autosomes 21
Downs Syndrome
Trisomy 21 Nos
G Trisomy
47,xx,+21
47,xy,+21
Trisomy G
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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
唐氏综合症,也称为21三体,与骨髓增生性疾病、暂时性染色体疾病有关。与唐氏综合症有关的重要基因是DCR(唐氏综合症染色体区域)。在该疾病的背景下提到了氟替卡松和催产素。附属组织包括甲状腺和心脏,相关表型为智力障碍和短颈
Related ID:
MALACARDS:DWN001
OMIM:190685
MESH:D004314
ICD11:1624623908
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
胎儿期
1-5/10000
89
1127
97
DWN001
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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