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DO Term : familial hypocalciuric hypercalcemia 1 [DOID:0060700] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.

synonyms:
FHH type 1,
ORDO:93372,
145980,
ICD10CM:E83.5,
familial benign hypercalcemia 1,
familial hypocalciuric hypercalcemia type I,
HHC1,
OMIM:145980,
hypocalciuric hypercalcemia type I

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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