Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth (MNS)

Alias:
Overgrowth-Metaphyseal Undermodeling-Spondylar Dysplasia Syndrome
Moreno-Nishimura-Schmidt Syndrome
Nishimura-Schmidt Syndrome
Endochondral Gigantism
Mns Syndrome
Mns
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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
骨皮质发育不良、脊柱发育不良和过度生长,也称为过度生长-骨皮质发育不良-脊柱发育不良综合症,与梅尼克-尼尔斯综合症和耳鼻喉-手足综合症I型有关。与骨皮质发育不良、脊柱发育不良和过度生长有关的重要基因是GPC3(糖蛋白3)。附属组织包括骨和皮肤。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
胎儿期
<1/1000000
1
6
3

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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