| Metadata | |
|---|---|
| ID | DOID:0060702 |
| Name | familial hypocalciuric hypercalcemia 3 |
| Definition | A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/23222959 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
familial hypocalciuric hypercalcemia type 3 [EXACT] FHH type 3 [EXACT] HHC3 [EXACT] hypocalciuric hypercalcemia type III [EXACT] |
| Parent Relationships |