RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)
Synonyms:
exact_synonym:
CPEO With Ragged-Red Fibers; CPEO with Myopathy; CPEO with myopathies; Chronic Progressive External Ophthalmoplegia with Myopathy; KSS; Kearn Sayre Mitochondrial Cytopathy; Kearn Syndrome; Kearns Sayre Shy Daroff Syndrome; Kearns Syndrome; Kearns-Sayre Mitochondrial Cytopathy; Oculocraniosomatic Syndrome; Ophthalmoplegia Plus Syndrome; Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy; oculocraniosomatic syndromes; ophthalmoplegia plus syndromes; progressive external ophthalmoplegia with ragged-red fibers