Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	LONG QT SYNDROME 5
Synonyms	LQT5
ID	http://purl.bioontology.org/ontology/OMIM/613695
altLabel	LQT5 LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO LONG QT SYNDROME 2/5, DIGENIC LQT2/5, DIGENIC
cui	C1867904 C3279092 C3150956
Gene Locus	21q22.1-q22.2
Gene Symbol	LQT5 JLNS2 JLNS KCNE1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU005010 http://purl.bioontology.org/ontology/OMIM/MTHU022436 http://purl.bioontology.org/ontology/OMIM/MTHU029137 http://purl.bioontology.org/ontology/OMIM/MTHU030411 http://purl.bioontology.org/ontology/OMIM/MTHU005008 http://purl.bioontology.org/ontology/OMIM/MTHU005011 http://purl.bioontology.org/ontology/OMIM/MTHU005012 http://purl.bioontology.org/ontology/OMIM/MTHU034524 http://purl.bioontology.org/ontology/OMIM/MTHU005009 http://purl.bioontology.org/ontology/OMIM/MTHU005017
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	613695
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	LONG QT SYNDROME 5
tui	T033 T047

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0110647	Human Disease Ontology 123	LOOM
http://purl.bioontology.org/ontology/MESH/C566766	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C566766	Medical Subject Headings	LOOM