Cole-Carpenter syndrome 2
Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene.
MONDO:0016085
Cole-Carpenter syndrome
is_a
MONDO:0800064
osteogenesis imperfecta and a reduction of bone mineral density.
is_a
CLCRP2
related
Cole-Carpenter syndrome 2
exact
Cole-Carpenter syndrome caused by mutation in SEC24D
exact
Cole-Carpenter syndrome type 2
exact
SEC24D Cole-Carpenter syndrome
exact
SPBC4.03c