Details of Disease

General Information of Disease (ID: DISJ2UMP)

Disease Name Osteogenesis imperfecta, type 21
Synonyms osteogenesis imperfecta 21; OI21; osteogenesis imperfecta, TYPE XXI
Disease Hierarchy
DIS7XQSD: Osteogenesis imperfecta
DISJ2UMP: Osteogenesis imperfecta, type 21
Disease Identifiers
MONDO ID
MONDO_0030861
UMLS CUI
C5436875
OMIM ID
619131
MedGen ID
1723598

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
KDELR2 OT9QW7Q0 Strong Autosomal recessive [1]
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References

1 Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2. Am J Hum Genet. 2020 Nov 5;107(5):989-999. doi: 10.1016/j.ajhg.2020.09.009. Epub 2020 Oct 13.