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familial hypocalciuric hypercalcemia 3
Summary
- Synonym
-
- FHH type 3
- HHC3
- familial hypocalciuric hypercalcemia type 3
- hypocalciuric hypercalcemia type III
- Definition
- A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13.
- Super Class
- familial hypocalciuric hypercalcemia
External Links
- Disease Ontology
- DOID:0060702
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
