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Metadata
DOID DOID:0110339
Name osteogenesis imperfecta type 3
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.
https://www.ncbi.nlm.nih.gov/pubmed/2794057, https://www.ncbi.nlm.nih.gov/pubmed/9099837
Synonyms

OI3 [EXACT]

osteogenesis imperfecta type III [EXACT]

progressively deforming osteogenesis imperfecta with normal sclera [EXACT]

Xrefs

GARD:8695

ICD10CM:Q78.0

OMIM:259420

Relationships

is_a osteogenesis imperfecta

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