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Metadata
DOID DOID:0110341
Name osteogenesis imperfecta type 2
Definition An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
https://www.ncbi.nlm.nih.gov/pubmed/3722184, https://www.ncbi.nlm.nih.gov/pubmed/6304100
Synonyms

OI2 [EXACT]

osteogenesis imperfecta type II [EXACT]

perinatal lethal osteogenesis imperfecta congenita [EXACT]

Vrolik type of osteogenesis imperfecta [EXACT]

Xrefs

GARD:10142

ICD10CM:Q78.0

OMIM:166210

Relationships

is_a osteogenesis imperfecta

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