autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2

Summary

DOID:0111515 - autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2

Disease Ontology Definition:A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3.

Synonyms: adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy, adult-onset CPEO with mitochondrial myopathy, autosomal recessive progressive external ophthalmoplegia 2, PEOB2

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: rnaseh1

MIM:

MIM:616479 - PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2

MIM:616479 - PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), chronic progressive external ophthalmoplegia (is_a)