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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Id | http://www.orpha.net/ORDO/Orphanet_120867
http://www.orpha.net/ORDO/Orphanet_120867
|
|---|---|
| Preferred Name | cystatin B |
| Synonyms |
stefin B
CST6
PME
Epilepsy, progressive myoclonic 1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
cystatin B
|
|---|---|
| prefLabel |
cystatin B
|
| hasDbXref |
Ensembl:ENSG00000160213
OMIM:601145
Genatlas:CSTB
SwissProt:P04080
Reactome:P04080
ClinVar:CSTB
HGNC:2482
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|
| alternative_term |
stefin B
CST6
PME
Epilepsy, progressive myoclonic 1
|
| prefixIRI |
ORDO:Orphanet_120867
|
| symbol |
CSTB
|
| subClassOf | |
| type |
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