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DO Term : autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 [DOID:0111516] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1.

synonyms:
autosomal recessive progressive external ophthalmoplegia 4,
ORDO:329314,
617070,
adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency,
PEOB4,
adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency,
OMIM:617070

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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