Term Name: osteogenesis imperfecta
Synonyms: brittle bone disease, Fragilitas ossium, Lobstein's syndrome, Osteopsathyrosis, Vrolik's disease
Definition: An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
Ontology: Human Disease [DOID:12347]   ( DOID:12347 )

Relationships
is a type of: osteochondrodysplasia
has subtype: Cole-Carpenter syndrome osteogenesis imperfecta type 1 osteogenesis imperfecta type 2 osteogenesis imperfecta type 3 osteogenesis imperfecta type 4 osteogenesis imperfecta type 5 osteogenesis imperfecta type 6 osteogenesis imperfecta type 7 osteogenesis imperfecta type 8 osteogenesis imperfecta type 9 osteogenesis imperfecta type 10 osteogenesis imperfecta type 11 osteogenesis imperfecta type 12 osteogenesis imperfecta type 13 osteogenesis imperfecta type 14 osteogenesis imperfecta type 15 osteogenesis imperfecta type 16 osteogenesis imperfecta type 17 osteogenesis imperfecta type 18 osteogenesis imperfecta type 19 osteogenesis imperfecta type 20 osteogenesis imperfecta type 21 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures