Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

KEARNS-SAYRE SYNDROME

Synonyms

OPHTHALMOPLEGIA, PIGMENTARY DEGENERATION OF RETINA, AND CARDIOMYOPATHY

ID

http://purl.bioontology.org/ontology/OMIM/530000

altLabel

OPHTHALMOPLEGIA, PIGMENTARY DEGENERATION OF RETINA, AND CARDIOMYOPATHY

OPHTHALMOPLEGIA-PLUS SYNDROME

CPEO WITH MYOPATHY

OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, WITH RAGGED-RED FIBERS

CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY

KSS

OCULOCRANIOSOMATIC SYNDROME

CPEO WITH RAGGED-RED FIBERS

MITOCHONDRIAL CYTOPATHY

cui

C0022541

C2931928

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU006723

http://purl.bioontology.org/ontology/OMIM/MTHU001836

http://purl.bioontology.org/ontology/OMIM/MTHU006713

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU036657

http://purl.bioontology.org/ontology/OMIM/MTHU006725

http://purl.bioontology.org/ontology/OMIM/MTHU000138

http://purl.bioontology.org/ontology/OMIM/MTHU000535

http://purl.bioontology.org/ontology/OMIM/MTHU028991

http://purl.bioontology.org/ontology/OMIM/MTHU037698

http://purl.bioontology.org/ontology/OMIM/MTHU037266

http://purl.bioontology.org/ontology/OMIM/MTHU006721

http://purl.bioontology.org/ontology/OMIM/MTHU036798

http://purl.bioontology.org/ontology/OMIM/MTHU036362

http://purl.bioontology.org/ontology/OMIM/MTHU006718

http://purl.bioontology.org/ontology/OMIM/MTHU004882

http://purl.bioontology.org/ontology/OMIM/MTHU000926

http://purl.bioontology.org/ontology/OMIM/MTHU006715

http://purl.bioontology.org/ontology/OMIM/MTHU006717

http://purl.bioontology.org/ontology/OMIM/MTHU006714

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU028990

http://purl.bioontology.org/ontology/OMIM/MTHU006716

http://purl.bioontology.org/ontology/OMIM/MTHU006726

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU001056

http://purl.bioontology.org/ontology/OMIM/MTHU000153

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU006722

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

530000

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

KEARNS-SAYRE SYNDROME

Scope Statement

Onset before age 20 [MISCELLANEOUS]

Caused by mutation in the mitochondrial tRNA (leucine)-1 gene (MTTL1, 590050.0011) [MOLECULAR BASIS]

Caused by deletion of multiple genes in the mitochondrial DNA [MOLECULAR BASIS]

Most cases are sporadic [MISCELLANEOUS]

Some pedigrees are consistent with autosomal dominant inheritance [MISCELLANEOUS]

Single mitochondrial DNA deletions are found in sporadic KSS patients [MISCELLANEOUS]

Multiple mitochondrial DNA deletions are found in autosomal dominant pedigrees [MISCELLANEOUS]

tui

T047

Delete Subject Author Type Created
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Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10048804 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10050029 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/77835008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/77835008 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10048804 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/25792000 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10CM/H49.81 ICD10CM CUI
http://purl.bioontology.org/ontology/RCD/X00fb RCD CUI
http://purl.bioontology.org/ontology/MESH/D007625 MESH CUI
http://purl.bioontology.org/ontology/SNMI/DA-51610 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/25792000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D007625 MSHFRE CUI
http://purl.bioontology.org/ontology/SNMI/DA-51680 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10048804 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/DA-51690 SNMI CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001732 NDFRT CUI
http://purl.bioontology.org/ontology/MESH/C540770 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/240096000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/240096000 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10050029 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10050029 MEDDRA CUI
http://nanbyodata.jp/ontology/NANDO_2200529 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1201064 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_12934 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0010787 EFO LOOM
rgo:27469 GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0010787 MONDO LOOM
http://www.orpha.net/ORDO/Orphanet_480 ORDO LOOM
http://purl.obolibrary.org/obo/NCIT_C84798 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.660.560.700.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/C315200 RCTV2 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84798 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D007625 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.660.410 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.280.238.510 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#7044 OCHV LOOM
http://purl.bioontology.org/ontology/ICD10CM/H49.81 ICD10CM LOOM
http://purl.bioontology.org/ontology/RCD/X00fb RCD LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Kearns-Sayre_Syndrome CSEO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12934 NATPRO LOOM
http://purl.obolibrary.org/obo/DOID_12934 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12934 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12934 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12934 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_12934 FNS-H LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_6_3 HAMIDEHSGH LOOM
http://purl.obolibrary.org/obo/MONDO_0010787 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.590.641.500 RH-MESH LOOM
http://purl.jp/bio/4/id/200906049782265305 IOBC LOOM
http://www.limics.org/hrdo/rdfns#pat_id_61 HRDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0022541 OCHV LOOM
http://purl.bioontology.org/ontology/MESH/D007625 MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036212 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.668.491.500.700.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/DA-51610 SNMI LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/25792000 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/OMIT_0008735 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.292.562.775.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.768.585.658.500.627 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.651.460.700.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10048804 MEDDRA LOOM
http://id.nlm.nih.gov/mesh/D007625 MDM LOOM