loading...| Preferred Name |
Kearns-Sayre Syndrome |
|
| Synonyms |
Kearns-Sayre Syndrome |
|
| Definitions |
A rare mitochondrial myopathy characterized by a progressive limitation of eye movements, leading to immobility and eye drop. It may be associated with muscle weakness, heart block, hearing loss, ataxia and short stature. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84798 |
|
| ALT_DEFINITION |
A genetically heterogenous condition caused by various deletions of mitochondrial DNA. The condition is characterized by myopathy, with "ragged red" fibers on histopathology of muscle biopsy, progressive external ophthalmoplegia, pigmentary retinopathy, cardiac conduction defects, ataxia, cognitive impairment, and diabetes mellitus. |
|
| code |
C84798 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467 |
|
| Contributing_Source |
Cellosaurus NICHD |
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| DEFINITION |
A rare mitochondrial myopathy characterized by a progressive limitation of eye movements, leading to immobility and eye drop. It may be associated with muscle weakness, heart block, hearing loss, ataxia and short stature. |
|
| FULL_SYN |
Kearns-Sayre Syndrome |
|
| label |
Kearns-Sayre Syndrome |
|
| Preferred_Name |
Kearns-Sayre Syndrome |
|
| prefixIRI |
Thesaurus:C84798 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0022541 |
|
| subClassOf |