Details of Disease

General Information of Disease (ID: DIS77XHA)

Disease Name Cole-Carpenter syndrome 2
Synonyms CLCRP2; COLE-CARPENTER syndrome 2; SEC24D Cole-Carpenter syndrome; Cole-Carpenter syndrome 2; Cole-Carpenter syndrome caused by mutation in SEC24D; Cole-Carpenter syndrome type 2
Definition Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene.
Disease Hierarchy
DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
DISTWF6O: Cole-Carpenter syndrome
DIS77XHA: Cole-Carpenter syndrome 2
Disease Identifiers
MONDO ID
MONDO_0014573
UMLS CUI
C4225382
OMIM ID
616294
MedGen ID
905199

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
SEC24D OTXR3KC9 Strong Autosomal recessive [1]
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References

1 Disruption of the Sec24d gene results in early embryonic lethality in the mouse. PLoS One. 2013 Apr 15;8(4):e61114. doi: 10.1371/journal.pone.0061114. Print 2013.