National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
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Preferred Name

Kearns-Sayre Syndrome
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84798
code

C84798
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.
label

Kearns-Sayre Syndrome
Preferred_Name

Kearns-Sayre Syndrome
prefixIRI

C84798
prefLabel

Kearns-Sayre Syndrome
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0022541
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D007625 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/OMIM/530000 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/ICD10CM/H49.81 International Classification of Diseases, Version 10 - Clinical Modification LOOM
http://purl.obolibrary.org/obo/DOID_12934 Human Disease Ontology 123 LOOM