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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
Chronic Recurrent Multifocal Osteomyelitis 2, with Periostitis and Pustulosis (CRMO2)
Alias:
Sterile Multifocal Osteomyelitis with Periostitis and Pustulosis
Interleukin 1 Receptor Antagonist Deficiency
Dira
Autoinflammatory Disease Due to Interleukin-1 Receptor Antagonist Deficiency
Ompp
Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis
Interleukin-1 Receptor Antagonist Deficiency
Crmo2
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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
慢性复发性多发性骨髓炎2型,伴有骨膜炎和脓疱病,也称为无菌性多发性骨髓炎/慢性复发性多发性骨髓炎和银屑病14型,脓疱型,其症状包括关节痛和指间关节肿胀。与慢性复发性多发性骨髓炎2型,伴有骨膜炎和脓疱病相关的基因是IL1RN(白介素1受体拮抗剂)。在该疾病的背景下,已经提到了Rilonacept和白介素1受体拮抗剂蛋白。相关的组织包括骨和皮肤,相关的表型是骨质疏松和宽肋。
Related ID:
MALACARDS:CHR739
OMIM:612852
MESH:D056660
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
<1/1000000
1
8
10
CHR739
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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