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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
非罕见病
Rh-Null, Regulator Type (RHNR)
Alias:
Anemia, Hemolytic, Rh-Null, Regulator Type
Rh-Null Hemolytic Anemia, Regulator Type
Regulator Type Rh-Null Hemolytic Anemia
Rh-Null Disease, Regulator Type
Rh Deficiency Syndrome
Rh-Deficiency Syndrome
Rhnr
Rhn
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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
Rh-Null, Regulator Type,又称贫血、溶血性、Rh-Null,调节型,与新生儿溶血病、Rh诱导和视网肝内分泌综合征有关。与Rh-Null, Regulator Type有关的重要基因是RHAG(Rh相关糖蛋白)。附属组织包括骨髓和骨,相关表型为黄疸和溶血性贫血。
Related ID:
MALACARDS:RHN013
OMIM:268150
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
6
17
RHN013
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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