epiphyseal dysplasia, multiple, 6
Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene.
MONDO:0015627
multiple epiphyseal dysplasia due to collagen 9 anomaly
is_a
COL9A1 multiple epiphyseal dysplasia (disease)
exact
EDM6
related
epiphyseal dysplasia, multiple, 6
exact
epiphyseal dysplasia, multiple, type 6
exact
multiple epiphyseal dysplasia (disease) caused by mutation in COL9A1
exact
multiple epiphyseal dysplasia 6
related