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Familial Hypocalciuric Hypercalcemia 1

Disease ID: disease_node_17447

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DbxrefICD10CM:E83.5, MIM:145980, ORDO:93372
SubclassofDOID_0060699
Data SourceDOID
SynonymsFHH type 1, HHC1, familial benign hypercalcemia 1, familial hypocalciuric hypercalcemia type I, hypocalciuric hypercalcemia type I
Doid Labelfamilial hypocalciuric hypercalcemia 1
Doid DescriptionA familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.
Disease Node Iddisease_node_17447
Doid IdDOID_0060700
LabelFamilial Hypocalciuric Hypercalcemia 1