autosomal dominant hypocalcemia 2

Term ID

DOID:0090108

Synonyms

• HYPOC2

Definition

An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13. https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia

References

• MIM:615361

Ontology

Human Disease   ( DOID:0090108 )