Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: autosomal dominant hypocalcemia caused by mutation in CASR autosomal dominant hypocalcemia 1 HYPOC1 hypocalcemia, autosomal dominant type 1 autosomal dominant hypocalcemia type 1 hypocalcemia, autosomal dominant, with Bartter syndrome CASR autosomal dominant hypocalcemia
Term information
- DOID:0090107 (MONDO:equivalentTo)
- UMLS:C3715128 (OMIM:601198)
- Orphanet:112 (OMIM:601198)
- Orphanet:263417 (OMIM:601198)
- OMIM:601198 (MONDO:equivalentTo)
rare, inferred_rare, clingen
hypercalciuric hypocalcemia
hypocalcemia, autosomal dominant 1
hypocalcemia, autosomal dominant 1, with Bartter syndrome
hypocalcemia, familial