Term Name: | achondrogenesis type II |
---|---|
Synonyms: | |
Definition: | An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. |
Ontology: | Human Disease [DOID:0080056] ( DOID:0080056 ) |