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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
Hemophilia B (HEMB)
Alias:
Christmas Disease
Factor Ix Deficiency
Congenital Factor Ix Deficiency
Plasma Thromboplastin Component Deficiency
Hereditary Factor Ix Deficiency Disease
Congenital Factor Ix Disorder
Congenital F9 Deficiency
Severe Hemophilia B
Mild Hemophilia B
F9 Deficiency
Hemb
Bleeding Disorder in Hemophilia B Carriers
Moderate Congenital Factor Ix Deficiency
Severe Congenital Factor Ix Deficiency
Mild Congenital Factor Ix Deficiency
Moderate Congenital F9 Deficiency
Deficiency, Functional Factor Ix
Severe Congenital F9 Deficiency
Recessive X-Linked Hemophilia B
Mild Congenital F9 Deficiency
Intravascular Clotting Defect
Moderate Hemophilia B
Factor 9 Deficiency
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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
血友病B,也被称为圣诞病,与血友病B莱登和血友病有关。与血友病B有关的重要基因是F9(凝血因子IX),其相关通路/超级通路包括细胞质钙离子升高的反应和胶原链三聚体化。抗抑制剂复合物和罗哌卡因已在该疾病的背景下被提及。附属组织包括大脑和全血,相关表型为血尿和颅内出血。
Related ID:
MALACARDS:HMP004
OMIM:306900
MESH:D002836
ICD11:755266992
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X显
新生儿
1-9/1000000
32
311
283
HMP004
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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