Term Name: autosomal dominant hypocalcemia 1
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 )

Relationships
is a type of: autosomal dominant hypocalcemia