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DO Term : autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 [DOID:0111518] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3.

synonyms:
autosomal dominant progressive external ophthalmoplegia 5,
OMIM:613077,
PEOA5,
613077

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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