Human Disease Ontology

Last uploaded: May 1, 2024
Preferred Name

familial hypocalciuric hypercalcemia

Synonyms

familial benign hypocalciuric hypercalcemia

FBH

Definitions

A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion.

ID

http://purl.obolibrary.org/obo/DOID_0060699

database_cross_reference

OMIM:PS145980

ICD10CM:E83.5

GARD:10828

ORDO:405

definition

A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion.

has exact synonym

familial benign hypocalciuric hypercalcemia

FBHH

FHH

familial benign hypercalcemia

FBH

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:0060699

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

familial hypocalciuric hypercalcemia

notation

DOID:0060699

prefLabel

familial hypocalciuric hypercalcemia

subClassOf

http://purl.obolibrary.org/obo/DOID_12678

http://purl.obolibrary.org/obo/DOID_655

http://purl.obolibrary.org/obo/DOID_0050736

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