mitochondrial DNA depletion syndrome 11

Summary

DOID:0080129 - mitochondrial DNA depletion syndrome 11

Disease Ontology Definition:A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11.

Synonyms: progressive external ophthalmoplegia-myopathy-emaciation syndrome

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

: mgme1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014039 - mitochondrial DNA depletion syndrome 11

MONDO:0014039 - mitochondrial DNA depletion syndrome 11

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), mitochondrial DNA depletion syndrome (is_a), mitochondrial metabolism disease (is_a)