MeSH Browser

MeSH Supplementary: Osteogenesis imperfecta, type 2A
Unique ID: C536042
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536042
Entry Term(s): OI, type 2A Osteogenesis imperfecta, type 2A; OI, type IIA Osteogenesis imperfecta, type IIA; OI2A Osteogenesis imperfecta 2A; Osteogenesis Imperfecta, Type IIA; Osteogenesis imperfecta congenita; Osteogenesis imperfecta congenita, perinatal lethal form; Vrolik Disease; Vrolik type of osteogenesis imperfecta
Registry Numbers: 0
Heading Mapped to: *Osteogenesis Imperfecta
Frequency: 59
Note: A severe form of osteogenesis imperfecta that is characterized by broad and short long bones and beaded ribs. Respiratory insufficiency usually results in death during the perinatal period. It is associated with mutations in the COL1A2 or COL1A1 genes. OMIM: 166210
Date of Entry: 2010/08/25
Revision Date: 2019/06/20

Osteogenesis imperfecta, type 2A MeSH Supplementary Concept Data 2025