autosomal dominant brachyolmia
Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0015262
brachyolmia
is_a
MONDO:0018240
TRPV4-related bone disorder
is_a
BCYM3
related
brachyolmia autosomal dominant
related
brachyolmia type 3
exact
brachyolmia, autosomal dominant
exact