Epiphyseal Dysplasia, Multiple, 6 (EDM6)

Alias:
Multiple Epiphyseal Dysplasia 6
Edm6
Dysplasia, Epiphyseal, Multiple, Type 6
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epiphyseal Dysplasia, Multiple, 6, also known as multiple epiphyseal dysplasia 6, is related to autosomal recessive stickler syndrome and scheuermann disease, and has symptoms including hip pain and knee pain. An important gene associated with Epiphyseal Dysplasia, Multiple, 6 is COL9A1 (Collagen Type IX Alpha 1 Chain), and among its related pathways/superpathways are Signal Transduction and Phospholipase-C Pathway. Affiliated tissues include bone, and related phenotypes are osteoarthritis and intervertebral disk calcification
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Basic Information

Inheritance
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Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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19
115
1

Medical Symptom

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Gene & Mutation

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MGI
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References Literature

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