Details of Disease

General Information of Disease (ID: DISV3Q10)

Disease Name Osteogenesis imperfecta, type 19
Synonyms OI19; osteogenesis imperfecta, type XIX; osteogenesis imperfecta, type XIX, X-linked recessive
Disease Hierarchy
DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
DISV3Q10: Osteogenesis imperfecta, type 19
Disease Identifiers
MONDO ID
MONDO_0049223
UMLS CUI
C4746956
OMIM ID
301014
MedGen ID
1648353

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
MBTPS2 OT67CC7W Strong X-linked [1]
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References

1 MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. Nat Commun. 2016 Jul 6;7:11920. doi: 10.1038/ncomms11920.