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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
Multicentric Reticulohistiocytosis
Alias:
Lipoid Dermatoarthritis
Giant Cell Histiocytomatosis
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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
多中心网状组织细胞增生症,也称为脂质性皮肤关节炎,与组织细胞增生症和非朗格汉斯细胞组织细胞增生症有关。与多中心网状组织细胞增生症相关的重要基因是CD68(CD68分子),其相关通路/超级通路包括先天性免疫系统和MHC I介导的抗原处理和呈递。附属组织包括皮肤和骨髓,相关表型为关节炎和皮肤结节
Related ID:
MALACARDS:MLT016
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
成年期
--
7
36
--
MLT016
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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