Category:Hypochondrogenesis

An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, abnormal ossification located_in vertebral column and located_in pelvis, and hydrops fetalis. The disease has_symptom enlarged abdomen.

equivalent URI:=http://purl.obolibrary.org/obo/DOID_0080044