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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
Takayasu Arteritis
Alias:
Aortic Arch Syndrome
Takayasu's Arteritis
Idiopathic Aortitis
Aortic Arch Arteritis
Aortic Arch Syndromes
Aortic Arch Defects
Pulseless Disease
Obliterative Brachiocephalic Arteritis Syndrome
Chronic Subclavian-Carotid Obstruction Syndrome
Idiopathic Medial Aortopathy and Arteriopathy
Young Female Aortic Arch Arteritis Syndrome
Subclavian-Carotid Obstruction Syndrome
Sclerosing Aortitis and Arteritis
Nonspecific Aortoarteritis
Raeder-Harbitz Syndrome
Young Female Arteritis
Obliterative Aortitis
Aortic Arches Defect
Martorell 2 Syndrome
Takayasu's Disease
Takayasu Syndrome
Takayasu Aortitis
Takayasu Disease
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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
川崎病,又称主动脉弓综合征,与血管炎和炎症性肠病有关。与川崎病相关的基因是HLA-B(主要组织相容性复合物,I类,B),其相关通路/超级通路包括先天免疫系统和MIF介导的糖皮质激素调节。在该疾病的背景下提到了泼尼松和托法替尼。附属组织包括心脏和骨骼,相关表型为多汗和疲劳。
Related ID:
MALACARDS:TKY002
OMIM:207600
MESH:D001015
ICD11:1327645131
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
1-9/1000000
38
388
12
TKY002
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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