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Disease Ontology Browser
familial hypocalciuric hypercalcemia 1 (DOID:0060700)
Alliance: disease page
Synonyms: familial benign hypercalcemia 1; familial hypocalciuric hypercalcemia type I; FHH type 1; HHC1; hypocalciuric hypercalcemia type I
Alt IDs: OMIM:145980, ICD10CM:E83.5, ORDO:93372
Definition: A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory