Spondylometaphyseal Dysplasia, Algerian Type

Alias:
Spondylometaphyseal Dysplasia with Severe Genu Valgum
Spondylometaphyseal Dysplasia, Schmidt Type
Spondylometaphyseal Dysplasia Algerian Type
Dysplasia, Spondyloepimetaphyseal, Algerian Type
Metaphyseal Chondrodysplasia Schmid Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spondylometaphyseal Dysplasia, Algerian Type, also known as spondylometaphyseal dysplasia with severe genu valgum, is related to spondyloepimetaphyseal dysplasia, strudwick type and osteochondrodysplasia. An important gene associated with Spondylometaphyseal Dysplasia, Algerian Type is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include bone, and related phenotypes are abnormality of the vertebral column and metaphyseal dysplasia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
<1/1000000
1
19
4

Medical Symptom

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

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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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
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IF
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