Human Disease Ontology

Last uploaded: November 1, 2024

Preferred Name	long QT syndrome 9
Synonyms	LQT9
Definitions	A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3.
ID	http://purl.obolibrary.org/obo/DOID_0110650
database_cross_reference	MESH:C567515 ICD10CM:I45.8 GARD:10435 MIM:611818
definition	A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3.
has exact synonym	LQT9
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:0110650
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	long QT syndrome 9
notation	DOID:0110650
prefLabel	long QT syndrome 9
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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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0110650	HHEAR	SAME_URI
http://purl.obolibrary.org/obo/DOID_0110650	NIFSTD	SAME_URI
http://purl.obolibrary.org/obo/DOID_0110650	FNS-H	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0012736	MONDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C567515	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIM_611818	CCO	LOOM
http://purl.bioontology.org/ontology/OMIM/611818	OMIM	LOOM
http://purl.bioontology.org/ontology/MESH/C567515	MESH	LOOM
http://identifiers.org/omim/611818	REXO	LOOM
http://identifiers.org/omim/611818	GEXO	LOOM
http://identifiers.org/omim/611818	RETO	LOOM
http://purl.obolibrary.org/obo/MONDO_0012736	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0012736	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0012736	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0012736	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0012736	DOVES	LOOM
http://purl.obolibrary.org/obo/DOID_0110650	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0110650	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0110650	FNS-H	LOOM