Spherocytosis, Type 5 (SPH5)

Alias:
Hereditary Spherocytosis Type 5
Sph5
Hs5
Spherocytosis, Hereditary, Type 5
Spherocytosis, Hereditary, 5
Hereditary Spherocytosis 5
Spherocytosis 5
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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
球形红细胞增多症,类型5,又称遗传性球形红细胞增多症,类型5,与过敏性疾病和严重联合免疫缺陷有关。与球形红细胞增多症,类型5有关的重要基因是EPB42(红细胞膜蛋白带4.2)。相关表型为脾肿大和黄疸

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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6
20
12

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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