elastin - CISMeF

Preferred Label : elastin;

Approved symbol HGNC : ELN;

Name synonyms HGNC : Williams-Beuren syndrome; tropoelastin; supravalvular aortic stenosis;

Alias symbols HGNC : SVAS; WBS; WS;

Chromosome HGNC : 7q11.23;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000049540;

Details

Origin ID

HGNC:3327;

UMLS CUI

C1414382;

Automatic exact mappings (from CISMeF team)
- Congenital supravalvar aortic stenosis [ICD-11 Subcategory]
- Elastin [OMIM gene]
- Elastin [NCIt concept]
- Elastin [FMA entity]
- Elastin (substance) [SNOMED CT concept]
- Supravalvular Aortic Stenosis [NCIt concept]
- Supravalvular aortic stenosis [OMIM Phenotype]
- Supravalvular aortic stenosis [PASCAL descriptor]
- Supravalvular aortic stenosis [ORDO Disease]
- Supravalvular aortic stenosis [MedDRA Preferred Term]
- Supravalvular aortic stenosis [ICD-10 Sub-category]
- Supravalvular aortic stenosis [HPO term]
- Williams Syndrome [NCIt concept]
- Williams syndrome [ORDO Disease]
- Williams syndrome [PASCAL descriptor]
- Williams-Beuren syndrome [ICD-11 More detail]
- Williams-Beuren syndrome [DO Concept]
- Williams-beuren syndrome [OMIM Phenotype]
- aortic stenosis, supravalvular [MeSH Descriptor]
- aortic stenosis, supravalvular [MeSH concept]
- elastin [ORDO Gene]
- elastin [MeSH concept]
- elastin [MeSH Descriptor]
- elastin [SNOMED Notion]
- elastins [Substance BNPC]
- extracellular matrix constituent conferring elasticity [GO term]
- supravalvular aortic stenosis [DO Concept]
- tropoelastin [MeSH concept]
- tropoelastin [MeSH Descriptor]
- williams syndrome [MeSH Descriptor]
NCIt concept
- ELN Gene [NCIt concept]
OMIM gene
- Elastin [OMIM gene]
Orphanet gene
- elastin [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- ELN Gene [NCIt concept]
- ELN gene [LOINC component]
- Elastin [OMIM gene]

Keyword's position in hierarchy(ies) :

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