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Metadata
ID DOID:0110344
Name osteogenesis imperfecta type 5
Definition An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15.
https://www.ncbi.nlm.nih.gov/pubmed/22863190
Xrefs

GARD:8699

ICD10CM:Q78.0

OMIM:610967

Subsets

DO_rare_slim

Synonyms

OI5 [EXACT]

osteogenesis imperfecta type V [EXACT]

Parent Relationships

is_a osteogenesis imperfecta

is_a autosomal dominant disease

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