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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
Hereditary Lymphedema Ii (LMPH2)
Alias:
Hereditary Lymphedema Type Ii
Lymphedema Hereditary Type 2
Lymphedema, Hereditary, Ii
Late-Onset Lymphedema
Lymphedema Praecox
Lymphedema Preacox
Meige Lymphedema
Meige Syndrome
Meigs Syndrome
Meige Disease
Lmph2
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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
遗传性淋巴水肿II,也称为遗传性淋巴水肿II型,与黄色指甲综合症和斜颈有关,症状包括斜颈。与遗传性淋巴水肿II有关的重要基因是THAP1(THAP域包含1)。在该疾病的背景下,已提到的药物包括乙酰胆碱和胆碱能药物。附属组织包括乳腺和皮肤。
Related ID:
MALACARDS:HRD206
MESH:C562467
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
成年期
--
14
89
--
HRD206
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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