Online Mendelian Inheritance in Man - MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/254800 http://purl.bioontology.org/ontology/OMIM/254800
Preferred Name	MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
Synonyms	EPILEPSY, PROGRESSIVE MYOCLONIC, 1A ULD PME BALTIC MYOCLONIC EPILEPSY EPM1A PROGRESSIVE MYOCLONIC EPILEPSY EPM1 EPILEPSY, PROGRESSIVE MYOCLONIC, 1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	EPILEPSY, PROGRESSIVE MYOCLONIC, 1A ULD PME BALTIC MYOCLONIC EPILEPSY EPM1A PROGRESSIVE MYOCLONIC EPILEPSY EPM1 EPILEPSY, PROGRESSIVE MYOCLONIC, 1 See more See less
prefLabel	MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
Gene Symbol	CSTB PME STFB EPM1 ULD EPM1A See more See less
Scope Statement	High frequency in Finnish population [MISCELLANEOUS] Onset 6-13 years [MISCELLANEOUS] Three stages of disease progression - Stage 1 (subclinical), Stage 2 (early myoclonic), Stage 3 (disabling myoclonic) [MISCELLANEOUS] Caused by mutation in the cystatin B gene (CSTB, 601145.0001) [MOLECULAR BASIS] Incidence of 1 in 20,000 live births [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU010911 http://purl.bioontology.org/ontology/OMIM/MTHU010910 http://purl.bioontology.org/ontology/OMIM/MTHU010913 http://purl.bioontology.org/ontology/OMIM/MTHU010918 http://purl.bioontology.org/ontology/OMIM/MTHU010915 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU010909 http://purl.bioontology.org/ontology/OMIM/MTHU010908 http://purl.bioontology.org/ontology/OMIM/MTHU010919 http://purl.bioontology.org/ontology/OMIM/MTHU010917 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU010916 http://purl.bioontology.org/ontology/OMIM/MTHU010912 http://purl.bioontology.org/ontology/OMIM/MTHU010914 See more See less
tui	T047
Gene Locus	21q22.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	254800
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0751785
OMIM Entry Type	3
OMIM MimType Value	pound

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