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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Id | http://www.orpha.net/ORDO/Orphanet_121053
http://www.orpha.net/ORDO/Orphanet_121053
|
|---|---|
| Preferred Name | desmin |
| Synonyms |
intermediate filament protein
CSM1
CMD1I
cardiomyopathy, dilated 1I
LGMD2R
CSM2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
desmin
|
|---|---|
| prefLabel |
desmin
|
| hasDbXref |
Reactome:P17661
OMIM:125660
Genatlas:DES
ClinVar:DES
Ensembl:ENSG00000175084
SwissProt:P17661
HGNC:2770
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|
| alternative_term |
intermediate filament protein
CSM1
CMD1I
cardiomyopathy, dilated 1I
LGMD2R
CSM2
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|
| prefixIRI |
ORDO:Orphanet_121053
|
| symbol |
DES
|
| subClassOf | |
| type |
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