Boudin-Mortier Syndrome (BOMOS)

Alias:
Tall Stature and Long Digits with Extra Epiphyses
Bomos
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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
布登-莫里耶综合征,又称高身材和长手指伴额外关节,与关节软骨发育不良,miura型有关。与布登-莫里耶综合征有关的重要基因是NPR3(利钠肽受体3)。附属组织包括骨,相关表型为高身材和手中间指伪关节
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
22
2

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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