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Metadata
ID DOID:0110336
Name osteogenesis imperfecta type 8
Definition An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2.
https://www.ncbi.nlm.nih.gov/pubmed/17277775
Xrefs

GARD:10152

ICD10CM:Q78.0

OMIM:610915

Subsets

DO_rare_slim

Synonyms

OI8 [EXACT]

osteogenesis imperfecta type VIII [EXACT]

Parent Relationships

is_a osteogenesis imperfecta

is_a autosomal recessive disease

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