Bartter disease type 5

Definition

Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene.

Also known as BARTS5, Bartter syndrome caused by mutation in MAGED2, Bartter syndrome, type 5, antenatal, transient, Bartter syndrome, type 5, antenatal, transient, X-linked recessive, MAGED2 Bartter syndrome — per MONDO

Also identified as

• DOID 0110147 per MONDO
• OMIM 300971 per MONDO
• Orphanet 570371 per MONDO
• UMLS C4310820 per MONDO