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Metadata
ID DOID:0110350
Name osteogenesis imperfecta type 6
Definition An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3.
https://www.ncbi.nlm.nih.gov/pubmed/21353196
Xrefs

GARD:8700

ICD10CM:Q78.0

OMIM:613982

Subsets

DO_rare_slim

Synonyms

OI6 [EXACT]

osteogenesis imperfecta type VI [EXACT]

Parent Relationships

is_a osteogenesis imperfecta

is_a monogenic disease

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