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Osteogenesis imperfecta, type 2A MeSH Supplementary Concept Data 2024


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 Number
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 Preferred
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