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DO Term : mitochondrial DNA depletion syndrome 4b [DOID:0080123] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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 (POLG) on chromosome 15q26.
  • synonyms:
  • mitochondrial neurogastrointestinal encephalopathy syndrome,
  • OMIM:613662,
  • 613662,
  • ORDO:298
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