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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
Pheochromocytoma/paraganglioma Syndrome 2 (PPGL2)
Alias:
Paragangliomas 2
Glomus Tumors, Familial, 2
Pgl2
Familial Non-Chromaffin Paragangliomas 2
Glomus Tumors Familial 2
Paragangliomas, Type 2
Ppgl2
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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
嗜铬细胞瘤/副神经节瘤2,也称为副神经节瘤2,与遗传性副神经节瘤-嗜铬细胞瘤综合征和副神经节瘤有关,症状包括失音。与嗜铬细胞瘤/副神经节瘤2有关的重要基因是SDHAF2(琥珀酸脱氢酶复合物装配因子2)。附属组织包括内皮和平滑肌,相关表型为颅神经麻痹和声带麻痹。
Related ID:
MALACARDS:PHC023
OMIM:601650
MESH:D010235
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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1
3
9
PHC023
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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