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. (Human Disease Ontology, DOID_0080044)
Similar Terms
Downloads & Tools
Genes
1 genes involed in the disease hypochondrogenesis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.