Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1

Synonyms

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1

ID

http://purl.bioontology.org/ontology/OMIM/157640

altLabel

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1

PEOA1

cui

C1834846

Gene Locus

15q25

Gene Symbol

POLG1

SANDO

MTDPS4B

MTDPS4A

PEO

MIRAS

SCAE

POLGA

POLG

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU002517

http://purl.bioontology.org/ontology/OMIM/MTHU027233

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU003217

http://purl.bioontology.org/ontology/OMIM/MTHU036443

http://purl.bioontology.org/ontology/OMIM/MTHU036372

http://purl.bioontology.org/ontology/OMIM/MTHU000970

http://purl.bioontology.org/ontology/OMIM/MTHU001054

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU017138

http://purl.bioontology.org/ontology/OMIM/MTHU005170

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

http://purl.bioontology.org/ontology/OMIM/MTHU017148

http://purl.bioontology.org/ontology/OMIM/MTHU003308

http://purl.bioontology.org/ontology/OMIM/MTHU000990

http://purl.bioontology.org/ontology/OMIM/MTHU017142

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU017152

http://purl.bioontology.org/ontology/OMIM/MTHU017140

http://purl.bioontology.org/ontology/OMIM/MTHU017146

http://purl.bioontology.org/ontology/OMIM/MTHU000968

http://purl.bioontology.org/ontology/OMIM/MTHU017144

http://purl.bioontology.org/ontology/OMIM/MTHU036932

http://purl.bioontology.org/ontology/OMIM/MTHU017156

http://purl.bioontology.org/ontology/OMIM/MTHU000765

http://purl.bioontology.org/ontology/OMIM/MTHU003683

http://purl.bioontology.org/ontology/OMIM/MTHU006637

http://purl.bioontology.org/ontology/OMIM/MTHU000966

http://purl.bioontology.org/ontology/OMIM/MTHU000572

http://purl.bioontology.org/ontology/OMIM/MTHU027234

http://purl.bioontology.org/ontology/OMIM/MTHU003307

http://purl.bioontology.org/ontology/OMIM/MTHU000653

http://purl.bioontology.org/ontology/OMIM/MTHU017139

http://purl.bioontology.org/ontology/OMIM/MTHU000301

http://purl.bioontology.org/ontology/OMIM/MTHU000657

http://purl.bioontology.org/ontology/OMIM/MTHU017147

http://purl.bioontology.org/ontology/OMIM/MTHU017145

http://purl.bioontology.org/ontology/OMIM/MTHU017143

http://purl.bioontology.org/ontology/OMIM/MTHU017149

http://purl.bioontology.org/ontology/OMIM/MTHU017137

http://purl.bioontology.org/ontology/OMIM/MTHU000440

http://purl.bioontology.org/ontology/OMIM/MTHU017141

http://purl.bioontology.org/ontology/OMIM/MTHU000349

http://purl.bioontology.org/ontology/OMIM/MTHU000967

http://purl.bioontology.org/ontology/OMIM/MTHU000940

http://purl.bioontology.org/ontology/OMIM/MTHU000335

http://purl.bioontology.org/ontology/OMIM/MTHU053488

http://purl.bioontology.org/ontology/OMIM/MTHU000964

http://purl.bioontology.org/ontology/OMIM/MTHU017153

http://purl.bioontology.org/ontology/OMIM/MTHU003689

http://purl.bioontology.org/ontology/OMIM/MTHU000969

http://purl.bioontology.org/ontology/OMIM/MTHU017151

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

604005

550000

603280

160550

601227

notation

157640

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C563575 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C563575 Medical Subject Headings LOOM