Cole-Carpenter syndrome 1

Definition

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

Also known as Cole-Carpenter syndrome 1, Cole-Carpenter syndrome caused by mutation in P4HB, Cole-Carpenter syndrome type 1, P4HB Cole-Carpenter syndrome — per MONDO

Also identified as

• OMIM 112240 per MONDO
• UMLS C4317154 per MONDO