Autosomal dominant hypocalcemia 1

Definition

Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene.

Also known as autosomal dominant hypocalcemia caused by mutation in CASR, autosomal dominant hypocalcemia type 1, CASR autosomal dominant hypocalcemia, HYPOC1, hypocalcemia, autosomal dominant type 1, hypocalcemia, autosomal dominant, with Bartter syndrome — per MONDO

Also identified as

• DOID 0090107 per MONDO
• OMIM 601198 per MONDO
• UMLS C3715128 per MONDO