autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5

Summary

DOID:0111524 - autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5

Disease Ontology Definition:A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2.

Synonyms: autosomal recessive progressive external ophthalmoplegia 5, PEOB5

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

: top3a

MIM:

MIM:618098 - PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5; PEOB5

MIM:618098 - PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5; PEOB5

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)