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Summary Literature (0)
DOID:0060702 - familial hypocalciuric hypercalcemia 3


Disease Ontology Definition:A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13.

Synonyms: FHH type 3, HHC3, familial hypocalciuric hypercalcemia type 3, hypocalciuric hypercalcemia type III

Xenbase Genes : ap2s1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010926 - familial hypocalciuric hypercalcemia 3

OMIM:
OMIM:600740 - HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III; HHC3

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): familial hypocalciuric hypercalcemia (is_a)