Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618637
http://purl.bioontology.org/ontology/OMIM/618637
Preferred Name

OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1
Synonyms
OPML1
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
OPML1
prefLabel
OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1
Gene Symbol
NUTM2B-AS1
OPML1
Scope Statement
Caused by trinucleotide repeat expansion (CCG)n in the NUTM2B-AS1 gene (618639.0001) [MOLECULAR BASIS]
Adult onset [MISCELLANEOUS]
One Japanese family has been reported (last curated October 2019) [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU063914
http://purl.bioontology.org/ontology/OMIM/MTHU066453
http://purl.bioontology.org/ontology/OMIM/MTHU001652
http://purl.bioontology.org/ontology/OMIM/MTHU066450
http://purl.bioontology.org/ontology/OMIM/MTHU036444
http://purl.bioontology.org/ontology/OMIM/MTHU000317
http://purl.bioontology.org/ontology/OMIM/MTHU005283
http://purl.bioontology.org/ontology/OMIM/MTHU000653
http://purl.bioontology.org/ontology/OMIM/MTHU066451
http://purl.bioontology.org/ontology/OMIM/MTHU036443
http://purl.bioontology.org/ontology/OMIM/MTHU000283
http://purl.bioontology.org/ontology/OMIM/MTHU001420
http://purl.bioontology.org/ontology/OMIM/MTHU001772
http://purl.bioontology.org/ontology/OMIM/MTHU000990
http://purl.bioontology.org/ontology/OMIM/MTHU001673
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU066452
http://purl.bioontology.org/ontology/OMIM/MTHU036349
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tui
T047
Gene Locus
10q23.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618637
Semantic type UMLS property
Has inheritance type
cui
C5231436
OMIM Entry Type
3
OMIM MimType Value
pound
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