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DO Term : mitochondrial DNA depletion syndrome 17 [DOID:0070448] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome.
  • synonyms:
  • OMIM:618567,
  • 618567
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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