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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
Cutaneous Fibrous Histiocytoma
Alias:
Dermatofibroma
Fibrohistiocytic Tumor
Benign Cutaneous Fibrous Histiocytoma
Fibrous Histiocytoma of Skin
Sclerosing Angioma of Skin
Fibrous Xanthoma of Skin
Fibrous Histiocytoma
Pleomorphic Fibroma
Sclerosing Angioma
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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
皮肤纤维组织细胞瘤,又名皮肤纤维瘤,与恶性纤维组织细胞瘤和恶性炎症性纤维组织细胞瘤有关。与皮肤纤维组织细胞瘤相关的重要基因是F13A1(凝血因子十三A链),其相关通路/超级通路包括细胞质钙离子浓度升高后的反应和血管壁的细胞表面相互作用。在该疾病的背景下提到了依托泊苷和长春新碱。附属组织包括皮肤和骨骼,相关表型为稳态/代谢和细胞。
Related ID:
MALACARDS:CTN004
MESH:D018219
ICD11:425706508
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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19
445
--
CTN004
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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