familial hypocalciuric hypercalcemia 1

Term ID

DOID:0060700

Synonyms

• familial benign hypercalcemia 1
• familial hypocalciuric hypercalcemia type I
• FHH type 1
• HHC1
• hypocalciuric hypercalcemia type I

Definition

A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21. https://www.ncbi.nlm.nih.gov/pubmed/7916660

References

• ICD10CM:E83.5
• OMIM:145980
• ORDO:93372

Ontology

Human Disease   ( DOID:0060700 )