familial hypocalciuric hypercalcemia 3 Disease Ontology Browser

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Disease Ontology Browser

familial hypocalciuric hypercalcemia 3 (DOID:0060702)
Alliance: disease page
Synonyms: familial hypocalciuric hypercalcemia type 3; FHH type 3; HHC3; hypocalciuric hypercalcemia type III
Alt IDs: OMIM:600740, ICD10CM:E83.5, ORDO:101050
Definition: A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13.

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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