multiple epiphyseal dysplasia type 1
Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.
MONDO:0016648
multiple epiphyseal dysplasia
is_a
MONDO:0100593
COMP-related skeletal dysplasia
is_a
COMP multiple epiphyseal dysplasia (disease)
exact
EDM1
exact
MED1
exact
Polyepiphyseal dysplasia type 1
exact
epiphyseal dysplasia multiple 1
related
epiphyseal dysplasia, multiple, 1
related
epiphyseal dysplasia, multiple, type 1
exact
multiple epiphyseal dysplasia (disease) caused by mutation in COMP
exact
multiple epiphyseal dysplasia 1
related
multiple epiphyseal dysplasia COMP-related
related