Mondo Disease Ontology

Last uploaded: November 25, 2024
Preferred Name

long QT syndrome 9
Synonyms

long QT syndrome 2/9, digenic

long QT syndrome 9, acquired, susceptibility to

LQT9

CAV3 long QT syndrome

long QT syndrome caused by mutation in CAV3

long QT syndrome 9

long QT syndrome type 9

Definitions

Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene.

ID

http://purl.obolibrary.org/obo/MONDO_0012736

database_cross_reference

MEDGEN:395635

GARD:10435

OMIM:611818

DOID:0110650

UMLS:C2678485

MESH:C567515

definition

Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene.

has_exact_synonym

LQT9

CAV3 long QT syndrome

long QT syndrome caused by mutation in CAV3

long QT syndrome 9

long QT syndrome type 9

has_related_synonym

long QT syndrome 2/9, digenic

long QT syndrome 9, acquired, susceptibility to

id

MONDO:0012736

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

label

long QT syndrome 9

notation

MONDO:0012736

prefLabel

long QT syndrome 9

seeAlso

https://rarediseases.info.nih.gov/diseases/10435/long-qt-syndrome-9

skos_exactMatch

https://omim.org/entry/611818

http://identifiers.org/mesh/C567515

http://linkedlifedata.com/resource/umls/id/C2678485

http://identifiers.org/medgen/395635

http://purl.obolibrary.org/obo/DOID_0110650

treeView

http://purl.obolibrary.org/obo/MONDO_0019171

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0002442

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019171

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