Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

CYSTATIN B
Synonyms

STFB

STEFIN B

CSTB

MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
ID

http://purl.bioontology.org/ontology/OMIM/601145
altLabel

STFB

STEFIN B

CSTB

MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
cui

C0751785

C1332798
Gene Locus

21q22.3
Gene Symbol

CSTB

PME

STFB

EPM1

ULD

EPM1A
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/601145.0006

http://purl.bioontology.org/ontology/OMIM/601145.0003

http://purl.bioontology.org/ontology/OMIM/601145.0001

http://purl.bioontology.org/ontology/OMIM/601145.0005

http://purl.bioontology.org/ontology/OMIM/601145.0002

http://purl.bioontology.org/ontology/OMIM/601145.0004
MIMTYPEMEANING

Gene with known sequence
Moved from

184601
notation

601145
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

CYSTATIN B
tui

T047

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MSHFRE/D020194 MSHFRE CUI
http://purl.bioontology.org/ontology/LNC/LP32722-8 LOINC CUI
http://purl.bioontology.org/ontology/MDRGER/10054858 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10054894 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/DA-31590 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10054858 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/230423006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000004032 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10054894 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10054895 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10054894 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10054858 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10054895 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/X006V RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/230423006 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10054895 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/0485-7984 CRISP CUI
http://purl.bioontology.org/ontology/MESH/D020194 MESH CUI
http://purl.obolibrary.org/obo/OMIT_0026214 OMIT LOOM
http://purl.bioontology.org/ontology/MESH/D055313 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.215.200 RH-MESH LOOM
http://purl.obolibrary.org/obo/MESH_D055313 BERO LOOM
http://id.nlm.nih.gov/mesh/D055313 MDM LOOM
http://purl.jp/bio/4/id/200906049743784966 IOBC LOOM
http://www.orpha.net/ORDO/Orphanet_120867 ORDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00023818 PMAPP-PMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C128872 NCIT LOOM
http://purl.obolibrary.org/obo/PR_000005974 PR LOOM
http://purl.obolibrary.org/obo/PR_000005974 NIFSTD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D055313 RH-MESH LOOM
http://www.case.edu/EpilepsyOntology.owl#CSTB EPSO LOOM
http://purl.obolibrary.org/obo/NCIT_C128872 BERO LOOM