otospondylomegaepiphyseal dysplasia
Insley-Astley syndrome
related
Nance Sweeney chondrodysplasia
related
OSMED
exact
OSMED syndrome
related
oto-spondylo-mega-epiphyseal dysplasia
related
otospondylmegaepiphyseal dysplasia
exact
otospondylomegaepiphyseal dysplasia
exact
An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.
MONDO:0019686
obsolete type 2 collagen-related bone disorder (obsolete MONDO:0019686)
excluded_subClassOf
MONDO:0016761
spondyloepiphyseal dysplasia
is_a