| Metadata | |
|---|---|
| ID | DOID:12934 |
| PURL | http://purl.obolibrary.org/obo/DOID_12934 Copy |
| Name | Kearns-Sayre syndrome |
| Definition | A chronic progressive external ophthalmoplegia characterized by progressive external ophthalmoplegia, pigmentary retinopathy, and one or more of heart block, cerebellar ataxia, or a cerebrospinal fluid protein level above 100 mg/dl, that has_material_basis_in deletion of mitochondrial DNA. Onset is before 20 years of age. https://pubmed.ncbi.nlm.nih.gov/10072053/, https://pubmed.ncbi.nlm.nih.gov/16365882/, https://www.ncbi.nlm.nih.gov/books/NBK482341/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:25792000 |
| SKOS |
exactMatch GARD:6817 exactMatch ICD10CM:H49.81 exactMatch MESH:D007625 exactMatch MIM:530000 exactMatch NCI:C84798 exactMatch ORDO:480 exactMatch UMLS_CUI:C0022541 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
KSS [EXACT] |
| Parent Relationships |