otospondylomegaepiphyseal dysplasia
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
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