Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

SUPRAVALVULAR AORTIC STENOSIS
Synonyms

SUPRAVALVAR AORTIC STENOSIS, EISENBERG TYPE
ID

http://purl.bioontology.org/ontology/OMIM/185500
altLabel

SUPRAVALVAR AORTIC STENOSIS, EISENBERG TYPE

SVAS
cui

C0003499

C2936909
Gene Locus

7q11.2
Gene Symbol

ADCL1

SVAS

ELN
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

185500
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SUPRAVALVULAR AORTIC STENOSIS
tui

T047
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http://purl.bioontology.org/ontology/MESH/D021921 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/Q25.3 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10CM/Q25.3 International Classification of Diseases, Version 10 - Clinical Modification LOOM
http://purl.obolibrary.org/obo/DOID_1929 Human Disease Ontology 123 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85176 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MESH/C538461 Medical Subject Headings CUI