Details of Disease

General Information of Disease (ID: DISVIZTJ)

Disease Name Osteogenesis imperfecta type 16
Synonyms
osteogenesis imperfecta, type 16; osteogenesis imperfecta, type XVI; OI, type 16; chromosome 11P11.2 deletion syndrome, 91.3-Kb; OI16; osteogenesis imperfecta type XVI; chromosome 11p11.2 deletion syndrome 91.3-KB
Definition An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11.
Disease Hierarchy
DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
DISVIZTJ: Osteogenesis imperfecta type 16
Disease Identifiers
MONDO ID
MONDO_0014544
UMLS CUI
C4015610
OMIM ID
616229
MedGen ID
864047

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
CREB3L1 OT2JHIHM Strong Autosomal recessive [1]
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References

1 Signalling mediated by the endoplasmic reticulum stress transducer OASIS is involved in bone formation. Nat Cell Biol. 2009 Oct;11(10):1205-11. doi: 10.1038/ncb1963. Epub 2009 Sep 20.