Details of Disease

General Information of Disease (ID: DISS24AB)

Disease Name Osteogenesis imperfecta, IIA 22
Synonyms OI22; osteogenesis imperfecta, IIA 22
Disease Hierarchy
DIS7XQSD: Osteogenesis imperfecta
DISS24AB: Osteogenesis imperfecta, IIA 22
Disease Identifiers
MONDO ID
MONDO_0030714
UMLS CUI
C5676943
OMIM ID
619795
MedGen ID
1801631

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
CCDC134 OT70OQQV Limited Unknown [1]
------------------------------------------------------------------------------------

References

1 Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta. J Bone Miner Res. 2020 Aug;35(8):1470-1480. doi: 10.1002/jbmr.4011. Epub 2020 Apr 14.