multiple epiphyseal dysplasia, Beighton type
Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.
MONDO:0016648
multiple epiphyseal dysplasia
is_a
MONDO:0022800
type 2 collagenopathy
is_a
EDMMD
related
epiphyseal dysplasia, multiple, with myopia and conductive deafness
related
epiphyseal dysplasia, multiple, with myopia and deafness
exact