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Disease Ontology Browser
Kearns-Sayre syndrome (DOID:12934)
Alliance: disease page
Synonyms: KSS
Alt IDs: OMIM:530000, ICD10CM:H49.81, MESH:D007625, NCI:C84798, ORDO:480, UMLS_CUI:C0022541
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
06/09/2026
MGI 6.24 		The Jackson Laboratory