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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
Avascular Necrosis of Femoral Head, Primary, 1 (ANFH1)
Alias:
Ischemic Necrosis of Femoral Head
Osteonecrosis of Femoral Head
Anfh1
Avascular Necrosis of the Femoral Head
Femoral Head, Avascular Necrosis of
Avascular Necrosis of Femoral Head
Femoral Head, Aseptic Necrosis of
Necrosis, Avascular, Femoral Head
Aseptic Necrosis of Femoral Head
Avascular Necrosis of Femur Head
Femur Head Necrosis
Anfh
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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
股骨头无菌性坏死,原发性,1,也称为股骨头缺血性坏死,与股骨头无菌性坏死,原发性,2和家族性股骨头无菌性坏死有关。与股骨头无菌性坏死,原发性,1有关的重要基因是COL2A1(II型胶原α1链)。在该疾病的背景下,已提到的药物有利伐沙班和牛肝素。附属组织包括脂肪、骨和骨髓,相关表型为股骨头颈无菌性坏死和髋部疼痛。
Related ID:
MALACARDS:AVS006
OMIM:608805
MESH:D005271
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
19
11
AVS006
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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