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DO Term : mitochondrial DNA depletion syndrome 16B [DOID:0070447] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A mitochondrial DNA depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.
  • synonyms:
  • mitochondrial DNA depletion syndrome 16B (neuroophthalmic type),
  • 619425,
  • OMIM:619425
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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