Details of Disease

General Information of Disease (ID: DISLTJ8W)

Disease Name Cleidocranial dysplasia 2
Disease Hierarchy
DIS9SPWW: Osteochondrodysplasia
DISLTJ8W: Cleidocranial dysplasia 2
Disease Identifiers
MONDO ID
MONDO_0859307
UMLS CUI
C5774243
OMIM ID
620099
MedGen ID
1824016

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
CBFB OTIAC6W4 Strong Autosomal dominant [1]
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References

1 Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia. J Med Genet. 2023 May;60(5):498-504. doi: 10.1136/jmg-2022-108739. Epub 2022 Oct 14.