mitochondrial DNA depletion syndrome 4b

Summary

DOID:0080123 - mitochondrial DNA depletion syndrome 4b

Disease Ontology Definition:A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene on chromosome 15q26.

Synonyms: mitochondrial neurogastrointestinal encephalopathy 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

: polg

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013350 - mitochondrial DNA depletion syndrome 4b

MONDO:0013350 - mitochondrial DNA depletion syndrome 4b

Other Model Organisms: AGR, 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)