Spondylometaphyseal Dysplasia, Type A4 (SMDA4)

Alias:
Spondylometaphyseal Dysplasia, A4 Type
Spondylometaphyseal Dysplasia Type A4
Smda4
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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
脊柱-骨骺-骨骺发育不良,A4型,也称为脊柱-骨骺-骨骺发育不良,A4型,与脊柱-骨骺-骨骺发育不良,Strudwick型和骨骺发育不良有关。附属组织包括骨和舌,相关表型为扁平椎体和微小肢。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
婴儿期
<1/1000000
--
--
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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信息比对
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