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Metadata
ID DOID:0110348
Name osteogenesis imperfecta type 12
Definition An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13.
https://www.ncbi.nlm.nih.gov/pubmed/20579626
Xrefs

ICD10CM:Q78.0

MIM:613849

Synonyms

OI12 [EXACT]

osteogenesis imperfecta type XII [EXACT]

Parent Relationships

is_a osteogenesis imperfecta

is_a autosomal recessive disease

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