Term Name: | autosomal dominant hypocalcemia 1 |
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Synonyms: | HYPOC1 |
Definition: | An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21. |
Ontology: | Human Disease [DOID:0090107] ( DOID:0090107 ) |