Bartter disease type 2

Definition

Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.

Also known as BARTS2, Bartter disease type 2, Bartter syndrome caused by mutation in KCNJ1, Bartter syndrome type 2, Bartter syndrome, type 2, hyperprostaglandin E syndrome 2, KCNJ1 Bartter syndrome — per MONDO

Also identified as

• DOID 0110143 per MONDO
• MESH C537651 per MONDO
• OMIM 241200 per MONDO
• Orphanet 620220 per MONDO
• SCTID 700109009 per MONDO
• UMLS C1855849 per MONDO