loading...| Preferred Name |
Kearns-Sayre Syndrome [Disease/Finding] |
|
| Synonyms |
Cpeo With Ragged-Red Fibers |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001732 |
|
| altLabel |
Cpeo With Ragged-Red Fibers Ophthalmoplegia, Progressive External, With Ragged-Red Fibers Ophthalmoplegia-Plus Syndrome Chronic Progressive External Ophthalmoplegia with Myopathy Kearns-Sayre Mitochondrial Cytopathy CPEO with Myopathy Oculocraniosomatic Syndrome Kearns-Sayre Syndrome Ophthalmoplegia Plus Syndrome Kearns' Syndrome Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy Kearn-Sayre Mitochondrial Cytopathy Kearns Syndrome Kearns Sayre Syndrome CPEO with Ragged Red Fibers Kearns-Sayre-Shy-Daroff Syndrome |
|
| cui |
C0022541 |
|
| MESH DEFINITION |
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) |
|
| MESH DUI |
D007625 |
|
| MeSH name |
Kearns-Sayre Syndrome |
|
| MESH UI |
M0011934 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001732 |
|
| NUI |
N0000001732 |
|
| prefLabel |
Kearns-Sayre Syndrome [Disease/Finding] |
|
| SNOMED CID |
25792000 |
|
| tui |
T047 |
|
| subClassOf |