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DO Term : mitochondrial DNA depletion syndrome 12a [DOID:0080130] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35.
  • synonyms:
  • NCI:C129977,
  • 617184,
  • OMIM:617184
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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