autosomal dominant hypocalcemia 1

Term ID

DOID:0090107

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. https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia

References

• MIM:601198

Ontology

Human Disease   ( DOID:0090107 )