Online Mendelian Inheritance in Man - KEARNS-SAYRE SYNDROME - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Details
Visualization
Notes ( 0 )
Class Mappings ( )

Preferred Name	KEARNS-SAYRE SYNDROME
Synonyms	KSS
ID	http://purl.bioontology.org/ontology/OMIM/530000
altLabel	KSS OPHTHALMOPLEGIA-PLUS SYNDROME OCULOCRANIOSOMATIC SYNDROME MITOCHONDRIAL CYTOPATHY CPEO WITH RAGGED-RED FIBERS OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, WITH RAGGED-RED FIBERS CPEO WITH MYOPATHY OPHTHALMOPLEGIA, PIGMENTARY DEGENERATION OF RETINA, AND CARDIOMYOPATHY CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY
cui	C2931928 C0022541
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036362 http://purl.bioontology.org/ontology/OMIM/MTHU005493 http://purl.bioontology.org/ontology/OMIM/MTHU000138 http://purl.bioontology.org/ontology/OMIM/MTHU004882 http://purl.bioontology.org/ontology/OMIM/MTHU006714 http://purl.bioontology.org/ontology/OMIM/MTHU006717 http://purl.bioontology.org/ontology/OMIM/MTHU001836 http://purl.bioontology.org/ontology/OMIM/MTHU006726 http://purl.bioontology.org/ontology/OMIM/MTHU000926 http://purl.bioontology.org/ontology/OMIM/MTHU006729 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU028992 http://purl.bioontology.org/ontology/OMIM/MTHU001056 http://purl.bioontology.org/ontology/OMIM/MTHU028990 http://purl.bioontology.org/ontology/OMIM/MTHU006732 http://purl.bioontology.org/ontology/OMIM/MTHU006730 http://purl.bioontology.org/ontology/OMIM/MTHU006722 http://purl.bioontology.org/ontology/OMIM/MTHU036798 http://purl.bioontology.org/ontology/OMIM/MTHU036657 http://purl.bioontology.org/ontology/OMIM/MTHU006718 http://purl.bioontology.org/ontology/OMIM/MTHU037698 http://purl.bioontology.org/ontology/OMIM/MTHU006716 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU006715 http://purl.bioontology.org/ontology/OMIM/MTHU006713 http://purl.bioontology.org/ontology/OMIM/MTHU028991 http://purl.bioontology.org/ontology/OMIM/MTHU028993 http://purl.bioontology.org/ontology/OMIM/MTHU000153 http://purl.bioontology.org/ontology/OMIM/MTHU006723 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU006721 http://purl.bioontology.org/ontology/OMIM/MTHU006725 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU006731 http://purl.bioontology.org/ontology/OMIM/MTHU037266 http://purl.bioontology.org/ontology/OMIM/MTHU000535
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	530000
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	KEARNS-SAYRE SYNDROME
tui	T047

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display

Create New Mapping

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/D007625	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/D007625	Medical Subject Headings	LOOM
	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84798	National Cancer Institute Thesaurus	LOOM
	http://purl.bioontology.org/ontology/ICD10CM/H49.81	International Classification of Diseases, Version 10 - Clinical Modification	CUI
	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
	http://purl.bioontology.org/ontology/MESH/C540770	Medical Subject Headings	CUI