Details of Disease

General Information of Disease (ID: DISUMXTO)

Disease Name Osteogenesis imperfecta type 12
Synonyms osteogenesis imperfecta, type 12; osteogenesis imperfecta, type XII; OI, type 12; SP7 osteogenesis imperfecta; OI12; osteogenesis imperfecta caused by mutation in SP7; osteogenesis imperfecta type XII
Definition Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene.
Disease Hierarchy
DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
DIS7XQSD: Osteogenesis imperfecta
DISUMXTO: Osteogenesis imperfecta type 12
Disease Identifiers
MONDO ID
MONDO_0013460
UMLS CUI
C3151433
OMIM ID
613849
MedGen ID
462783

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
SP7 OT07ETZT Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation. Cell. 2002 Jan 11;108(1):17-29. doi: 10.1016/s0092-8674(01)00622-5.