achondrogenesis
Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.
MONDO:0005516
osteochondrodysplasia
is_a
MONDO:0019694
spondylodysplastic dysplasia
is_a
SPBC3H7.02 SPBC119.12 SPAC869.05c SPCC320.05