| Metadata | |
|---|---|
| ID | DOID:0060700 |
| Name | familial hypocalciuric hypercalcemia 1 |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
familial benign hypercalcemia 1 [EXACT] familial hypocalciuric hypercalcemia type I [EXACT] FHH type 1 [EXACT] HHC1 [EXACT] hypocalciuric hypercalcemia type I [EXACT] |
| Parent Relationships |