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Preferred Name

ELASTIN
Synonyms

ELN
ID

http://purl.bioontology.org/ontology/OMIM/130160
altLabel

ELN

SUPRAVALVULAR AORTIC STENOSIS

CUTIS LAXA, AUTOSOMAL DOMINANT 1
cui

C0003499

C1414382

C3276539
Gene Locus

7q11.2
Gene Symbol

ADCL1

SVAS

ELN
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/130160.0001

http://purl.bioontology.org/ontology/OMIM/130160.0020

http://purl.bioontology.org/ontology/OMIM/130160.0002

http://purl.bioontology.org/ontology/OMIM/130160.0013

http://purl.bioontology.org/ontology/OMIM/130160.0007

http://purl.bioontology.org/ontology/OMIM/130160.0015

http://purl.bioontology.org/ontology/OMIM/130160.0014

http://purl.bioontology.org/ontology/OMIM/130160.0008

http://purl.bioontology.org/ontology/OMIM/130160.0009

http://purl.bioontology.org/ontology/OMIM/130160.0011

http://purl.bioontology.org/ontology/OMIM/130160.0003

http://purl.bioontology.org/ontology/OMIM/130160.0010

http://purl.bioontology.org/ontology/OMIM/130160.0016

http://purl.bioontology.org/ontology/OMIM/130160.0012

http://purl.bioontology.org/ontology/OMIM/130160.0006

http://purl.bioontology.org/ontology/OMIM/130160.0004

http://purl.bioontology.org/ontology/OMIM/130160.0005

http://purl.bioontology.org/ontology/OMIM/130160.0017

http://purl.bioontology.org/ontology/OMIM/130160.0018

http://purl.bioontology.org/ontology/OMIM/130160.0019
MIMTYPEMEANING

Gene with known sequence
notation

130160
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

ELASTIN
tui

T028

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/CHEBI_4767 Chemical Entities of Biological Interest Ontology / 生物相关的化学实体本体 LOOM
http://purl.bioontology.org/ontology/MESH/D021921 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q25.3 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.obolibrary.org/obo/PR_000007034 Protein Ontology / 蛋白质本体 LOOM
http://purl.obolibrary.org/obo/PR_000007034 中国人类表型本体 / Human Phenotype Ontology China LOOM
http://purl.bioontology.org/ontology/MESH/D004549 Medical Subject Headings / 医学主题词表 LOOM
http://purl.org/sig/ont/fma/fma67303 Foundational Model of Anatomy / 解剖学基础模型本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75335 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://www.orpha.net/ORDO/Orphanet_121517 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/LNC/LP33214-5 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI