Online Mendelian Inheritance in Man - JERVELL AND LANGE-NIELSEN SYNDROME 2 - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	JERVELL AND LANGE-NIELSEN SYNDROME 2
Synonyms	JLNS2
ID	http://purl.bioontology.org/ontology/OMIM/612347
altLabel	JLNS2
cui	C2676723
Gene Locus	21q22.1-q22.2
Gene Symbol	LQT5 JLNS2 JLNS KCNE1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU013508 http://purl.bioontology.org/ontology/OMIM/MTHU027893 http://purl.bioontology.org/ontology/OMIM/MTHU005008 http://purl.bioontology.org/ontology/OMIM/MTHU001096 http://purl.bioontology.org/ontology/OMIM/MTHU005012 http://purl.bioontology.org/ontology/OMIM/MTHU013509 http://purl.bioontology.org/ontology/OMIM/MTHU005009
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	612347
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	JERVELL AND LANGE-NIELSEN SYNDROME 2
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C567343	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C567343	Medical Subject Headings	LOOM