Cole-Carpenter syndrome 1
Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene.
MONDO:0016085
Cole-Carpenter syndrome
is_a
MONDO:0800064
osteogenesis imperfecta and a reduction of bone mineral density.
is_a
CLCRP1
related
Cole-Carpenter syndrome 1
exact
Cole-Carpenter syndrome caused by mutation in P4HB
exact
Cole-Carpenter syndrome type 1
exact
P4HB Cole-Carpenter syndrome
exact
SPAC1F5.02