Hennekam-Beemer Syndrome

Alias:
Mastocytosis-Short Stature-Hearing Loss Syndrome
Mastocytosis-Short Stature-Deafness Syndrome
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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
亨内卡姆-比默综合征,又称肥大细胞-矮小-听力损失综合征。相关组织包括皮肤,相关表型包括癫痫和发育不良
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
<1/1000000
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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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