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DOID:0060700 - familial hypocalciuric hypercalcemia 1
Disease Ontology Definition:A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.
Synonyms: familial benign hypercalcemia 1, familial hypocalciuric hypercalcemia type I, FHH type 1, HHC1, hypocalciuric hypercalcemia type I
Xenbase Genes
:
casr
| MONDO:0007791 - familial hypocalciuric hypercalcemia 1 |
| MIM:145980 - HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
familial hypocalciuric hypercalcemia (is_a)