Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616247 http://purl.bioontology.org/ontology/OMIM/616247
Preferred Name	LONG QT SYNDROME 14
Synonyms	LQT14
Type	http://www.w3.org/2002/07/owl#Class

altLabel	LQT14
prefLabel	LONG QT SYNDROME 14
Gene Symbol	PHKD CPVT4 CALM1 LQT14
Scope Statement	Caused by mutation in the calmodulin-1 gene (CALM1, 114180.0003) [MOLECULAR BASIS] Some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence [MISCELLANEOUS] Some patients experience neurologic sequelae (seizures or developmental delay) after multiple episodes of cardiac arrest [MISCELLANEOUS] In some patients, QTc interval is prolonged only during exercise testing [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU037226 http://purl.bioontology.org/ontology/OMIM/MTHU069958 http://purl.bioontology.org/ontology/OMIM/MTHU006088 http://purl.bioontology.org/ontology/OMIM/MTHU048251 http://purl.bioontology.org/ontology/OMIM/MTHU048246 http://purl.bioontology.org/ontology/OMIM/MTHU042672 http://purl.bioontology.org/ontology/OMIM/MTHU069956 http://purl.bioontology.org/ontology/OMIM/MTHU019192 http://purl.bioontology.org/ontology/OMIM/MTHU069957 See more See less
tui	T047
Gene Locus	14q24-q31
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616247
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4015671
OMIM Entry Type	3
OMIM MimType Value	pound

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