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DO Term : mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 [DOID:0111748] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6.
  • synonyms:
  • MC5DM1,
  • 500015,
  • OMIM:500015
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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