RAB23-related Carpenter syndrome

Definition

Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.

Also known as Carpenter syndrome 1, Carpenter syndrome caused by mutation in RAB23, Carpenter syndrome type 1, RAB23 Carpenter syndrome, RAB23-related Carpenter syndrome — per MONDO

Also identified as

• DOID 0061098 per MONDO
• OMIM 201000 per MONDO
• SCTID 205813009 per MONDO
• UMLS C4551510 per MONDO