Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	AORTIC VALVE DISEASE 2
Synonyms	AORTIC VALVE STENOSIS
ID	http://purl.bioontology.org/ontology/OMIM/614823
altLabel	AORTIC VALVE STENOSIS BICUSPID AORTIC VALVE AOVD2
cui	C3542024 C0003507
Gene Locus	15q21-q22
Gene Symbol	SMAD6 AOVD2 MADH6
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU040398 http://purl.bioontology.org/ontology/OMIM/MTHU040396 http://purl.bioontology.org/ontology/OMIM/MTHU004003 http://purl.bioontology.org/ontology/OMIM/MTHU004733 http://purl.bioontology.org/ontology/OMIM/MTHU040399 http://purl.bioontology.org/ontology/OMIM/MTHU040397
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614823
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	AORTIC VALVE DISEASE 2
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D001024	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/ICD10/Q25.3	International Classification of Diseases, Version 10	CUI
http://purl.obolibrary.org/obo/DOID_0080334	Human Disease Ontology 123	LOOM
http://purl.bmicc.cn/ontology/ICD10CN/Q25.3	International Classification of Diseases, 10th Edition, China	CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0003507	MedlinePlus Health Topics	CUI
http://purl.bmicc.cn/ontology/ICD10CN/I35.0	International Classification of Diseases, 10th Edition, China	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q25.1	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/ICD10/I35.0	International Classification of Diseases, Version 10	CUI