achondrogenesis type II
Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.
MONDO:0019648
achondrogenesis
is_a
MONDO:0022800
type 2 collagenopathy
is_a
ACG2
related
achondrogenesis type II
exact
achondrogenesis, Langer-Saldino type
exact
achondrogenesis, type II
related
achondrogenesis, type II or hypochondrogenesis
exact