Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618155
http://purl.bioontology.org/ontology/OMIM/618155
Preferred Name

OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES
Synonyms
EORVA
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
EORVA
prefLabel
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES
Gene Symbol
EORVA
MYF5
Scope Statement
Caused by mutation in the myogenic factor-5 gene (MYF5, 159990.0001) [MOLECULAR BASIS]
Variable phenotype [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU016768
http://purl.bioontology.org/ontology/OMIM/MTHU000191
http://purl.bioontology.org/ontology/OMIM/MTHU043167
http://purl.bioontology.org/ontology/OMIM/MTHU062616
http://purl.bioontology.org/ontology/OMIM/MTHU056280
http://purl.bioontology.org/ontology/OMIM/MTHU070560
http://purl.bioontology.org/ontology/OMIM/MTHU002917
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU062615
http://purl.bioontology.org/ontology/OMIM/MTHU017665
http://purl.bioontology.org/ontology/OMIM/MTHU062614
http://purl.bioontology.org/ontology/OMIM/MTHU016184
http://purl.bioontology.org/ontology/OMIM/MTHU062618
http://purl.bioontology.org/ontology/OMIM/MTHU070562
http://purl.bioontology.org/ontology/OMIM/MTHU062613
http://purl.bioontology.org/ontology/OMIM/MTHU062617
http://purl.bioontology.org/ontology/OMIM/MTHU070561
http://purl.bioontology.org/ontology/OMIM/MTHU036896
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tui
T047
Gene Locus
12q21
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618155
Semantic type UMLS property
Has inheritance type
cui
C4748418
OMIM Entry Type
3
OMIM MimType Value
pound
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