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 )

Relationships
is a type of: achondrogenesis autosomal dominant disease