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DO Term : mitochondrial DNA depletion syndrome 12b [DOID:0080335] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35.
  • synonyms:
  • GARD:1142,
  • 615418,
  • OMIM:615418,
  • ORDO:1369,
  • NCI:C129977
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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