Metaphyseal Dysplasia, Spahr Type (MDST)

Alias:
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal Chondrodysplasia Spahr Type
Mdst
Metaphyseal Chondrodysplasia Schmid Type
Spahr Type Metaphyseal Chondrodysplasia
Dysplasia, Metaphyseal, Spahr Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Metaphyseal Dysplasia, Spahr Type, also known as metaphyseal chondrodysplasia, spahr type, is related to spondyloepimetaphyseal dysplasia, missouri type and metaphyseal dysplasia, and has symptoms including waddling gait An important gene associated with Metaphyseal Dysplasia, Spahr Type is MMP13 (Matrix Metallopeptidase 13). Affiliated tissues include bone and lymph node, and related phenotypes are gait disturbance and hyperlordosis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
1
9
6

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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

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PMID
Journal
Year
IF
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