Details of Disease

General Information of Disease (ID: DIS24B5C)

Disease Name Ophthalmoplegia, external, with rib and vertebral anomalies
Synonyms OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES; EORVA
Disease Hierarchy
DISYKSRF: Genetic disease
DIS24B5C: Ophthalmoplegia, external, with rib and vertebral anomalies
Disease Identifiers
MONDO ID
MONDO_0032565
UMLS CUI
C4748418
OMIM ID
618155
MedGen ID
1648445

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MYF5 OTTVO2S5 Strong Autosomal recessive [1]
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References

1 Distinct regulatory cascades govern extraocular and pharyngeal arch muscle progenitor cell fates. Dev Cell. 2009 Jun;16(6):810-21. doi: 10.1016/j.devcel.2009.05.008.