Pseudohypoaldosteronism type 2D

Definition

Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene.

Also known as KLHL3 pseudohypoaldosteronism type 2, PHA2D, pseudohypoaldosteronism type 2 caused by mutation in KLHL3 — per MONDO

Also identified as

• OMIM 614495 per MONDO
• Orphanet 300525 per MONDO
• UMLS C3469605 per MONDO