Details of Disease

General Information of Disease (ID: DIS51PPY)

Disease Name Osteogenesis imperfecta type 7
Synonyms
OI, type 7; OI type VII; osteogenesis imperfecta, type 7; osteogenesis imperfecta, type IIb, formerly; osteogenesis imperfecta, type IIb; osteogenesis imperfecta, type VII; OI type 7; osteogenesis imperfecta type 7; osteogenesis imperfecta type VII; OI7; CRTAP osteogenesis imperfecta; osteogenesis imperfecta caused by mutation in CRTAP
Definition Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene.
Disease Hierarchy
DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
DIS7XQSD: Osteogenesis imperfecta
DIS51PPY: Osteogenesis imperfecta type 7
Disease Identifiers
MONDO ID
MONDO_0012536
MESH ID
C565200
UMLS CUI
C1853162
OMIM ID
610682
MedGen ID
343981

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CRTAP OT53H5U6 Strong Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.