Term Name: | hypochondrogenesis |
---|---|
Synonyms: | |
Definition: | An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen. |
Ontology: | Human Disease [DOID:0080044] ( DOID:0080044 ) |