epiphyseal dysplasia, multiple, 3

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Disease Overview

Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene.


Synonyms

  • COL9A3 multiple epiphyseal dysplasia (disease)
  • EDM3
  • epiphyseal dysplasia multiple 3
  • epiphyseal dysplasia, multiple, 3
  • epiphyseal dysplasia, multiple, 3, with myopathy
  • epiphyseal dysplasia, multiple, 3, with or without myopathy
  • epiphyseal dysplasia, multiple, type 3
  • multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3
  • multiple epiphyseal dysplasia 3

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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