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Metadata
ID DOID:0110340
Name osteogenesis imperfecta type 4
Definition An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae 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/2745420, https://www.ncbi.nlm.nih.gov/pubmed/2897363
Xrefs

GARD:8696

ICD10CM:Q78.0

OMIM:166220

Synonyms

OI4 [EXACT]

osteogenesis imperfecta type IV [EXACT]

osteogenesis imperfecta with normal sclera [EXACT]

Parent Relationships

is_a osteogenesis imperfecta

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