Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/130160
http://purl.bioontology.org/ontology/OMIM/130160
Preferred Name

ELASTIN
Synonyms
ELN
CUTIS LAXA, AUTOSOMAL DOMINANT 1
SUPRAVALVULAR AORTIC STENOSIS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
ELN
CUTIS LAXA, AUTOSOMAL DOMINANT 1
SUPRAVALVULAR AORTIC STENOSIS
prefLabel
ELASTIN
Gene Symbol
SVAS
ELN
ADCL1
notation
130160
Has allelic variant
http://purl.bioontology.org/ontology/OMIM/130160.0020
http://purl.bioontology.org/ontology/OMIM/130160.0009
http://purl.bioontology.org/ontology/OMIM/130160.0006
http://purl.bioontology.org/ontology/OMIM/130160.0005
http://purl.bioontology.org/ontology/OMIM/130160.0007
http://purl.bioontology.org/ontology/OMIM/130160.0003
http://purl.bioontology.org/ontology/OMIM/130160.0004
http://purl.bioontology.org/ontology/OMIM/130160.0002
http://purl.bioontology.org/ontology/OMIM/130160.0001
http://purl.bioontology.org/ontology/OMIM/130160.0008
http://purl.bioontology.org/ontology/OMIM/130160.0010
http://purl.bioontology.org/ontology/OMIM/130160.0014
http://purl.bioontology.org/ontology/OMIM/130160.0012
http://purl.bioontology.org/ontology/OMIM/130160.0015
http://purl.bioontology.org/ontology/OMIM/130160.0013
http://purl.bioontology.org/ontology/OMIM/130160.0018
http://purl.bioontology.org/ontology/OMIM/130160.0017
http://purl.bioontology.org/ontology/OMIM/130160.0011
http://purl.bioontology.org/ontology/OMIM/130160.0016
http://purl.bioontology.org/ontology/OMIM/130160.0019
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OMIM MimType Value
star
Semantic type UMLS property
OMIM Entry Type
1
type
MIMTYPEMEANING
Gene with known sequence
Gene Locus
7q11.2
Phenotype of
http://purl.bioontology.org/ontology/OMIM/130160.0020
http://purl.bioontology.org/ontology/OMIM/130160.0009
http://purl.bioontology.org/ontology/OMIM/130160.0006
http://purl.bioontology.org/ontology/OMIM/130160.0005
http://purl.bioontology.org/ontology/OMIM/130160.0007
http://purl.bioontology.org/ontology/OMIM/130160.0003
http://purl.bioontology.org/ontology/OMIM/130160.0004
http://purl.bioontology.org/ontology/OMIM/130160.0002
http://purl.bioontology.org/ontology/OMIM/130160.0001
http://purl.bioontology.org/ontology/OMIM/130160.0008
http://purl.bioontology.org/ontology/OMIM/130160.0010
http://purl.bioontology.org/ontology/OMIM/130160.0014
http://purl.bioontology.org/ontology/OMIM/130160.0012
http://purl.bioontology.org/ontology/OMIM/130160.0015
http://purl.bioontology.org/ontology/OMIM/130160.0013
http://purl.bioontology.org/ontology/OMIM/130160.0018
http://purl.bioontology.org/ontology/OMIM/130160.0017
http://purl.bioontology.org/ontology/OMIM/130160.0011
http://purl.bioontology.org/ontology/OMIM/130160.0016
http://purl.bioontology.org/ontology/OMIM/130160.0019
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tui
T047
T028
cui
C3276539
C0003499
C1414382
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