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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Id | http://www.orpha.net/ORDO/Orphanet_121517
http://www.orpha.net/ORDO/Orphanet_121517
|
|---|---|
| Preferred Name | elastin |
| Synonyms |
supravalvular aortic stenosis
SVAS
Williams-Beuren syndrome
tropoelastin
WBS
WS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
elastin
|
|---|---|
| prefLabel |
elastin
|
| hasDbXref |
Reactome:P15502
SwissProt:P15502
ClinVar:ELN
OMIM:130160
Ensembl:ENSG00000049540
Genatlas:ELN
HGNC:3327
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|
| alternative_term |
supravalvular aortic stenosis
SVAS
Williams-Beuren syndrome
tropoelastin
WBS
WS
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|
| prefixIRI |
ORDO:Orphanet_121517
|
| symbol |
ELN
|
| subClassOf | |
| type |
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