Human Disease Ontology

Last uploaded: June 2, 2024
Preferred Name

long QT syndrome 1

Synonyms

LQT1

Definitions

A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4.

ID

http://purl.obolibrary.org/obo/DOID_0110644

database_cross_reference

ICD10CM:I45.8

GARD:3284

MIM:192500

definition

A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4.

has material basis in

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

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

has_exact_synonym

LQT1

ventricular fibrillation with prolonged QT interval

has_obo_namespace

disease_ontology

id

DOID:0110644

in_subset

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

label

long QT syndrome 1

notation

DOID:0110644

prefLabel

long QT syndrome 1

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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