Online Mendelian Inheritance in Man - CARDIOMYOPATHY, DILATED, 1E - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	CARDIOMYOPATHY, DILATED, 1E
Synonyms	CMD1E
ID	http://purl.bioontology.org/ontology/OMIM/601154
altLabel	CMD1E CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2 CDCD2 CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA
cui	C1832680
Gene Locus	3p21
Gene Symbol	CDCD2 CMD1E SCN5A HB1 SSS1 LQT3 VF1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU033166 http://purl.bioontology.org/ontology/OMIM/MTHU036516 http://purl.bioontology.org/ontology/OMIM/MTHU038508 http://purl.bioontology.org/ontology/OMIM/MTHU038502 http://purl.bioontology.org/ontology/OMIM/MTHU003089 http://purl.bioontology.org/ontology/OMIM/MTHU022492 http://purl.bioontology.org/ontology/OMIM/MTHU038506 http://purl.bioontology.org/ontology/OMIM/MTHU038504 http://purl.bioontology.org/ontology/OMIM/MTHU038500 http://purl.bioontology.org/ontology/OMIM/MTHU005271 http://purl.bioontology.org/ontology/OMIM/MTHU038510 http://purl.bioontology.org/ontology/OMIM/MTHU038499 http://purl.bioontology.org/ontology/OMIM/MTHU038509 http://purl.bioontology.org/ontology/OMIM/MTHU038505 http://purl.bioontology.org/ontology/OMIM/MTHU038503 http://purl.bioontology.org/ontology/OMIM/MTHU006249 http://purl.bioontology.org/ontology/OMIM/MTHU038501 http://purl.bioontology.org/ontology/OMIM/MTHU038511 http://purl.bioontology.org/ontology/OMIM/MTHU038507 http://purl.bioontology.org/ontology/OMIM/MTHU007163 http://purl.bioontology.org/ontology/OMIM/MTHU005009
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	601154
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CARDIOMYOPATHY, DILATED, 1E
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C563384	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C563384	Medical Subject Headings	LOOM