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epiphyseal dysplasia, multiple, 3 | RareConnect | RareConnect.io

/multiple epiphyseal dysplasia due to collagen 9 anomaly

/epiphyseal dysplasia, multiple, 3

epiphyseal dysplasia, multiple, 3

Rare Disease

MONDO:0010964

Also Known As

COL9A3 multiple epiphyseal dysplasia (disease)epiphyseal dysplasia, multiple, 3epiphyseal dysplasia, multiple, 3, with or without myopathyepiphyseal dysplasia, multiple, type 3multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3EDM3epiphyseal dysplasia multiple 3epiphyseal dysplasia, multiple, 3, with myopathymultiple epiphyseal dysplasia 3

Definition

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

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:600969 ↗

GARD

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MONDO:0013591

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