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DO Term : mitochondrial complex V (ATP synthase) deficiency nuclear type 4A [DOID:0070461] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance.
  • synonyms:
  • 620358,
  • OMIM:620358,
  • MC5DN4A
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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