Human Disease Ontology

Last uploaded: November 1, 2024
Preferred Name

long QT syndrome 2
Synonyms

LQT2

Definitions

A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1.

ID

http://purl.obolibrary.org/obo/DOID_0110645

database_cross_reference

ICD10CM:I45.8

MESH:C563614

GARD:3285

MIM:613688

definition

A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1.

has exact synonym

LQT2

has material basis in

http://purl.obolibrary.org/obo/GENO_0000930

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

has_obo_namespace

disease_ontology

id

DOID:0110645

in_subset

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

label

long QT syndrome 2

notation

DOID:0110645

prefLabel

long QT syndrome 2

subClassOf

http://purl.obolibrary.org/obo/DOID_0080578

http://purl.obolibrary.org/obo/DOID_2843

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

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