Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

cystatin B

Synonyms

stefin B

ID

http://www.orpha.net/ORDO/Orphanet_120867

alternative_term

stefin B

CST6

PME

'Epilepsy, progressive myoclonic 1'

hasDbXref

Ensembl:ENSG00000160213

OMIM:601145

Genatlas:CSTB

SwissProt:P04080

Reactome:P04080

HGNC:2482

label

cystatin B

prefixIRI

ORDO:Orphanet_120867

prefLabel

cystatin B

symbol

CSTB

subClassOf

http://www.orpha.net/ORDO/Orphanet_410298

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