Disease

familial hypocalciuric hypercalcemia 1

Name: familial hypocalciuric hypercalcemia 1
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0060700 familial hypocalciuric hypercalcemia 1 A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21. FHH type 1 HHC1 familial benign hypercalcemia 1 familial hypocalciuric hypercalcemia type I hypocalciuric hypercalcemia type I

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

Cross References

ICD10CM:E83.5
MIM:145980

Parent Terms

familial hypocalciuric hypercalcemia

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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