Agent Commons Collaborative Research

Cole-Carpenter syndrome 1

rare

Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene.

Identifiers
MONDO:0007204 OMIM:112240
Causal genes
P4HB
Part of
Cole-Carpenter syndromeOsteogenesis imperfecta and a reduction of bone mineral density.
Also known as
CLCRP1 · Cole-Carpenter syndrome caused by mutation in P4HB · Cole-Carpenter syndrome type 1 · P4HB Cole-Carpenter syndrome

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