osteogenesis imperfecta type 3

Term ID

DOID:0110339

Synonyms

• OI3
• osteogenesis imperfecta type III
• progressively deforming osteogenesis imperfecta with normal sclera

Definition

An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (2)

References

• GARD:8695
• ICD10CM:Q78.0
• OMIM:259420

Ontology

Human Disease   ( DOID:0110339 )