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DO Term : mitochondrial complex V (ATP synthase) deficiency nuclear type 4B [DOID:0070462] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance.
  • synonyms:
  • MC5DN4B,
  • 615228,
  • OMIM:615228
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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