Breasts and/or nipples, aplasia or hypoplasia of, 2

Definition

Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene.

Also known as breasts and/or nipples, aplasia or hypoplasia of, 2, breasts and/or nipples, aplasia or hypoplasia of, type 2, isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF, PTPRF isolated congenital breast hypoplasia/aplasia — per MONDO

Also identified as

• OMIM 616001 per MONDO
• UMLS C4014918 per MONDO