Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/620647
http://purl.bioontology.org/ontology/OMIM/620647
Preferred Name

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6
Synonyms
PEOB6
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
PEOB6
prefLabel
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6
Gene Symbol
PEOB6
RRM1
Scope Statement
Caused by mutation in the ribonucleotide reductase catalytic subunit M1 polypeptide gene (RRM1, 180410.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU077978
http://purl.bioontology.org/ontology/OMIM/MTHU037107
http://purl.bioontology.org/ontology/OMIM/MTHU033731
http://purl.bioontology.org/ontology/OMIM/MTHU003653
http://purl.bioontology.org/ontology/OMIM/MTHU005170
http://purl.bioontology.org/ontology/OMIM/MTHU003217
http://purl.bioontology.org/ontology/OMIM/MTHU077979
http://purl.bioontology.org/ontology/OMIM/MTHU036353
http://purl.bioontology.org/ontology/OMIM/MTHU000653
http://purl.bioontology.org/ontology/OMIM/MTHU036443
http://purl.bioontology.org/ontology/OMIM/MTHU001420
http://purl.bioontology.org/ontology/OMIM/MTHU004882
http://purl.bioontology.org/ontology/OMIM/MTHU000990
http://purl.bioontology.org/ontology/OMIM/MTHU035590
http://purl.bioontology.org/ontology/OMIM/MTHU000225
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU077977
http://purl.bioontology.org/ontology/OMIM/MTHU032437
http://purl.bioontology.org/ontology/OMIM/MTHU008498
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tui
T047
Gene Locus
11p15.5
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
620647
Semantic type UMLS property
Has inheritance type
cui
C5882731
OMIM Entry Type
3
OMIM MimType Value
pound
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