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Disease Ontology Browser
familial hypocalciuric hypercalcemia 1 (DOID:0060700)
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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/14/2017
MGI 6.08
The Jackson Laboratory