Online Mendelian Inheritance in Man - LONG QT SYNDROME 9 - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	LONG QT SYNDROME 9
Synonyms	LONG QT SYNDROME 2/9, DIGENIC
ID	http://purl.bioontology.org/ontology/OMIM/611818
altLabel	LONG QT SYNDROME 2/9, DIGENIC LQT2/9, DIGENIC LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO LQT9
cui	C2678485
Gene Locus	3p25
Gene Symbol	CAV3 LGMD1C LQT9
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU057329 http://purl.bioontology.org/ontology/OMIM/MTHU048249 http://purl.bioontology.org/ontology/OMIM/MTHU057330 http://purl.bioontology.org/ontology/OMIM/MTHU057326 http://purl.bioontology.org/ontology/OMIM/MTHU057328 http://purl.bioontology.org/ontology/OMIM/MTHU057327 http://purl.bioontology.org/ontology/OMIM/MTHU057325
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	611818
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	LONG QT SYNDROME 9
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/DOID_0110650	Human Disease Ontology 123	LOOM
	http://purl.bioontology.org/ontology/MESH/C567515	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C567515	Medical Subject Headings	LOOM