epiphyseal dysplasia, multiple, 6

Rare Disease

MONDO:0013591

Also Known As

COL9A1 multiple epiphyseal dysplasia (disease)epiphyseal dysplasia, multiple, 6epiphyseal dysplasia, multiple, type 6multiple epiphyseal dysplasia (disease) caused by mutation in COL9A1EDM6multiple epiphyseal dysplasia 6

Definition

Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene.

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Associated Genes

COL9A1 ↗

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

External Resources

OMIM

OMIM:614135 ↗

GARD

GARD:13376 ↗

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