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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
非罕见病
Gorham's Disease
Alias:
Osteolysis, Essential
Disappearing Bone Disease
Gorham-Stout Syndrome
Essential Osteolysis
Phantom Bone Disease
Massive Osteolysis
Massive Osteolyses
Gorham 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
戈尔哈姆病,又称骨溶解症,是一种与骨坏死和原发性淋巴水肿有关的疾病。戈尔哈姆病相关的重要基因是RASA1(RAS P21蛋白激活因子1),其相关通路/超级通路包括TGF-β通路和对细胞质钙离子浓度升高的反应。在该疾病的背景下提到了血管内皮生长因子药物。相关组织包括骨和内皮,相关表型为免疫系统和心血管系统。
Related ID:
MALACARDS:GRH001
MESH:D010015
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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14
128
--
GRH001
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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